Stand: 20.09.2021

A) Publikationen des Konsortiums

A-1. Vangala DB, Ladigan-Badura S, Engel C, Huneburg R, Perne C, Bucksch K, Nattermann J, Steinke-Lange V, Rahner N, Weitz J, Kloor M, Tomann J, Canbay A, Nguyen HP, Strassburg C, Moslein G, Morak M, Holinski-Feder E, Buttner R, Aretz S, Loffler M, Schmiegel W, Pox C, Schulmann K.
Early detection of duodenal cancer by upper gastrointestinal-endoscopy in Lynch syndrome.
Int J Cancer. 2021 Jul 31. doi: 10.1002/ijc.33753. [PMID: 34331771]

A-2. Seppala TT, Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauss HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vida JB, Kariv R, Rosner G, Pinero TA, Pavicic W, Kalfayan P, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Buttner R, Gorgens H, Morak M, Holzapfel S, Huneburg R, von Knebel Doeberitz M, Loeffler M, Redler S, Weitz J, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Hopper JL, Win AK, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Wadt KAW, Mourits MJE, Ketabi Z, Denton OG, Rodland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Moslein G, Rokkones E, Sampson JR, Evans DG, Moller P.
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Eur J Cancer. 2021 May;148:124-133. doi: 10.1016/j.ejca.2021.02.022. Epub 2021 Mar 17. [PMID: 33743481]

A-3. Ladigan-Badura S, Vangala DB, Engel C, Bucksch K, Hueneburg R, Perne C, Nattermann J, Steinke-Lange V, Rahner N, Schackert HK, Weitz J, Kloor M, Kuhlkamp J, Nguyen HP, Moeslein G, Strassburg C, Morak M, Holinski-Feder E, Buettner R, Aretz S, Loeffler M, Schmiegel W, Pox C, Schulmann K.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Int J Cancer. 2021 Jan 1;148(1):106-114. doi: 10.1002/ijc.33294. Epub 2020 Oct 13. [PMID: 32930401]

A-4. Dominguez-Valentin M, Sampson JR, Moller P, Seppala TT.
Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum.
Int J Cancer. 2021 Jan 15;148(2):512-513. doi: 10.1002/ijc.33214. Epub 2020 Jul 30. [PMID: 32783184]

A-5. Dominguez-Valentin M, Plazzer JP, Sampson JR, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Macrae F, Winship IM, Thomas H, Evans DG, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Sijmons RH, Nielsen M, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Lindblom A, Valle AD, Lopez-Kostner F, Alvarez K, Gluck N, Katz L, Heinimann K, Vaccaro CA, Nakken S, Hovig E, Green K, Lalloo F, Hill J, Vasen HFA, Perne C, Buttner R, Gorgens H, Holinski-Feder E, Morak M, Holzapfel S, Huneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Steinke-Lange V, Schmiegel W, Vangala D, Crosbie EJ, Pineda M, Navarro M, Brunet J, Moreira L, Sanchez A, Serra-Burriel M, Mints M, Kariv R, Rosner G, Pinero TA, Pavicic WH, Kalfayan P, Broeke SWT, Mecklin JP, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Peltomaki P, Hopper JL, Win AK, Buchanan DD, Lindor NM, Gallinger S, Marchand LL, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Hansen TVO, Lindberg L, Rodland EA, Neffa F, Esperon P, Tjandra D, Moslein G, Seppala TT, Moller P.
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
J Clin Med. 2021 Jun 28;10(13). pii: jcm10132856. doi: 10.3390/jcm10132856. [PMID: 34203177]

A-6. Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauss HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Buttner R, Gorgens H, Morak M, Holzapfel S, Huneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rodland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Moslein G, Sampson JR, Evans DG, Seppala TT, Moller P.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1. [PMID: 33257847]

A-7. Bucksch K, Zachariae S, Ahadova A, Aretz S, Buttner R, Gorgens H, Holinski-Feder E, Huneburg R, Kloor M, von Knebel Doeberitz M, Ladigan-Badura S, Moeslein G, Morak M, Nattermann J, Nguyen HP, Perne C, Redler S, Schmetz A, Steinke-Lange V, Surowy H, Vangala DB, Weitz J, Loeffler M, Engel C.
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
Int J Cancer. 2021 Sep 1. doi: 10.1002/ijc.33790. [PMID: 34469588]

A-8. Ahadova A, Seppala TT, Engel C, Gallon R, Burn J, Holinski-Feder E, Steinke-Lange V, Moslein G, Nielsen M, Ten Broeke SW, Laghi L, Dominguez-Valentin M, Capella G, Macrae F, Scott R, Huneburg R, Nattermann J, Hoffmeister M, Brenner H, Blaker H, von Knebel Doeberitz M, Sampson JR, Vasen H, Mecklin JP, Moller P, Kloor M.
The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance.
Int J Cancer. 2021 Feb 15;148(4):800-811. doi: 10.1002/ijc.33224. Epub 2020 Aug 3. [PMID: 32683684]

A-9. (Anonymous).
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
Lancet Oncol. 2021 Jul;22(7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. Epub 2021 Jun 7. [PMID: 34111421]

A-10. Engel C, Ahadova A, Seppala TT, Aretz S, Bigirwamungu-Bargeman M, Blaker H, Bucksch K, Buttner R, de Vos Tot Nederveen Cappel WT, Endris V, Holinski-Feder E, Holzapfel S, Huneburg R, Jacobs M, Koornstra JJ, Langers AM, Lepisto A, Morak M, Moslein G, Peltomaki P, Pylvanainen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF.
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Gastroenterology. 2020 Apr;158(5):1326-1333. doi: 10.1053/j.gastro.2019.12.032. Epub 2020 Jan 8. [PMID: 31926173]

A-11. Dominguez-Valentin M, Seppala TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauss HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Moller P, Crosbie EJ.
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
J Clin Med. 2020 Jul 18;9(7). pii: jcm9072290. doi: 10.3390/jcm9072290. [PMID: 32708519]

A-12. Dominguez-Valentin M, Sampson JR, Seppala TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Kostner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Buttner R, Gorgens H, Holinski-Feder E, Morak M, Holzapfel S, Huneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvanainen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sanchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rodland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Moslein G, Mecklin JP, Nielsen M, Moller P.
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med. 2020 Sep;22(9):1569. doi: 10.1038/s41436-020-0892-4. [PMID: 32690931]

A-13. Dominguez-Valentin M, Sampson JR, Seppala TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Kostner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Buttner R, Gorgens H, Holinski-Feder E, Morak M, Holzapfel S, Huneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvanainen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sanchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rodland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Moslein G, Mecklin JP, Nielsen M, Moller P.
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. [PMID: 31337882]

A-14. Bucksch K, Zachariae S, Aretz S, Buttner R, Holinski-Feder E, Holzapfel S, Huneburg R, Kloor M, von Knebel Doeberitz M, Morak M, Moslein G, Nattermann J, Perne C, Rahner N, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vangala DB, Weitz J, Loeffler M, Engel C.
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
BMC Cancer. 2020 May 24;20(1):460. doi: 10.1186/s12885-020-06926-x. [PMID: 32448342]

A-15. Blaker H, Haupt S, Morak M, Holinski-Feder E, Arnold A, Horst D, Sieber-Frank J, Seidler F, von Winterfeld M, Alwers E, Chang-Claude J, Brenner H, Roth W, Engel C, Loffler M, Moslein G, Schackert HK, Weitz J, Perne C, Aretz S, Huneburg R, Schmiegel W, Vangala D, Rahner N, Steinke-Lange V, Heuveline V, von Knebel Doeberitz M, Ahadova A, Hoffmeister M, Kloor M.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Int J Cancer. 2020 Nov 15;147(10):2801-2810. doi: 10.1002/ijc.33273. Epub 2020 Sep 14. [PMID: 32875553]

A-16. Ten Broeke SW, Rodriguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capella G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salome J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M.
The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.
Cancer Epidemiol Biomarkers Prev. 2019 Jun;28(6):1010-1014. doi: 10.1158/1055-9965.EPI-18-0576. Epub 2019 Mar 1. [PMID: 30824524]

A-17. Seppala TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Moslein G, Bernstein I, Holinski-Feder E, Pylvanainen K, Renkonen-Sinisalo L, Lepisto A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Huneburg R, Holzapfel S, Heinimann K, Valle AD, Neffa F, Gluck N, de Vos Tot Nederveen Cappel WH, Vasen H, Morak M, Steinke-Lange V, Engel C, Rahner N, Schmiegel W, Vangala D, Thomas H, Green K, Lalloo F, Crosbie EJ, Hill J, Capella G, Pineda M, Navarro M, Blanco I, Ten Broeke S, Nielsen M, Ljungmann K, Nakken S, Lindor N, Frayling I, Hovig E, Sunde L, Kloor M, Mecklin JP, Kalager M, Moller P.
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Hered Cancer Clin Pract. 2019 Feb 28;17:8. doi: 10.1186/s13053-019-0106-8. eCollection 2019. [PMID: 30858900]

A-18. Huneburg R, Aretz S, Buttner R, Daum S, Engel C, Fechner G, Habermann JK, Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Doberitz M, Loeffler M, Moslein G, Perne C, Redler S, Riess O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP, Nattermann J.
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients].
Z Gastroenterol. 2019 Nov;57(11):1309-1320. doi: 10.1055/a-1008-9827. Epub 2019 Nov 18. [PMID: 31739377]

A-19. Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Moller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK.
Cancer Risks for PMS2-Associated Lynch Syndrome.
J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. [PMID: 30161022]

A-21. Engel C, Vasen HF, Seppala T, Aretz S, Bigirwamungu-Bargeman M, de Boer SY, Bucksch K, Buttner R, Holinski-Feder E, Holzapfel S, Huneburg R, Jacobs M, Jarvinen H, Kloor M, von Knebel Doeberitz M, Koornstra JJ, van Kouwen M, Langers AM, van de Meeberg PC, Morak M, Moslein G, Nagengast FM, Pylvanainen K, Rahner N, Renkonen-Sinisalo L, Sanduleanu S, Schackert HK, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vecht J, Verhulst ML, de Vos Tot Nederveen Cappel W, Zachariae S, Mecklin JP, Loeffler M. No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies.
Gastroenterology. 2018 Nov;155(5):1400-1409.e2. doi: 10.1053/j.gastro.2018.07.030. Epub 2018 Jul 29. [PMID: 30063918]

A-22. Morak M, Kasbauer S, Kerscher M, Laner A, Nissen AM, Benet-Pages A, Schackert HK, Keller G, Massdorf T, Holinski-Feder E. Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
Fam Cancer. 2017 May 20. doi: 10.1007/s10689-017-9975-z. [PMID: 28528517]

A-23. Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moslein G, Sampson JR, Capella G. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Gut. 2017 Sep;66(9):1657-1664. doi: 10.1136/gutjnl-2016-311403. Epub 2016 Jun 3. [PMID: 27261338]

A-24. Moller P, Seppala T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rodland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Moslein G. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.
Gut. 2017 Mar;66(3):464-472. doi: 10.1136/gutjnl-2015-309675. Epub 2015 Dec 9. [PMID: 26657901]

A-25. Binder H, Hopp L, Schweiger MR, Hoffmann S, Juhling F, Kerick M, Timmermann B, Siebert S, Grimm C, Nersisyan L, Arakelyan A, Herberg M, Buske P, Loeffler-Wirth H, Rosolowski M, Engel C, Przybilla J, Peifer M, Friedrichs N, Moeslein G, Odenthal M, Hussong M, Peters S, Holzapfel S, Nattermann J, Hueneburg R, Schmiegel W, Royer-Pokora B, Aretz S, Kloth M, Kloor M, Buettner R, Galle J, Loeffler M. Genomic and transcriptomic heterogeneity of colorectal tumors arising in Lynch Syndrome.
J Pathol. 2017 Jul 20. doi: 10.1002/path.4948. [PMID: 28727142]

A-26. Vogelaar IP, Ligtenberg MJ, van der Post RS, de Voer RM, Kets CM, Jansen TJ, Jacobs L, Schreibelt G, de Vries IJ, Netea MG, Hoogerbrugge N. Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.
Fam Cancer. 2016 Apr;15(2):289-96. doi: 10.1007/s10689-015-9859-z. [PMID: 26700889]

A-27. Spier I, Kerick M, Drichel D, Horpaopan S, Altmuller J, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Holinski-Feder E, Perner S, Thiele H, Nothen MM, Hoffmann P, Timmermann B, Schweiger MR, Aretz S. Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Fam Cancer. 2016 Apr;15(2):281-8. doi: 10.1007/s10689-016-9870-z. [PMID: 26780541]

A-28. Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nothen MM, Holinski-Feder E, Schweiger MR, Aretz S. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27. [PMID: 26613750]

A-29. Pistorius S, Klink B, Pablik J, Rump A, Aust D, Garzarolli M, Schrock E, Schackert HK. An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.
Hered Cancer Clin Pract. 2016 May 10;14:11. doi: 10.1186/s13053-016-0051-8. eCollection 2016. [PMID: 27168869]

A-30. Kloth M, Ruesseler V, Engel C, Koenig K, Peifer M, Mariotti E, Kuenstlinger H, Florin A, Rommerscheidt-Fuss U, Koitzsch U, Wodtke C, Ueckeroth F, Holzapfel S, Aretz S, Propping P, Loeffler M, Merkelbach-Bruse S, Odenthal M, Friedrichs N, Heukamp LC, Zander T, Buettner R. Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer.
Gut. 2016 Aug;65(8):1296-305. doi: 10.1136/gutjnl-2014-309026. Epub 2015 Apr 28. [PMID: 26001389]

A-31. Hahn MM, Vreede L, Bemelmans SA, van der Looij E, van Kessel AG, Schackert HK, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, de Voer RM. Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer.
Genes Chromosomes Cancer. 2016 Nov;55(11):855-63. doi: 10.1002/gcc.22385. Epub 2016 Jul 7. [PMID: 27239782]

A-32. de Voer RM, Hahn MM, Weren RD, Mensenkamp AR, Gilissen C, van Zelst-Stams WA, Spruijt L, Kets CM, Zhang J, Venselaar H, Vreede L, Schubert N, Tychon M, Derks R, Schackert HK, Geurts van Kessel A, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.
PLoS Genet. 2016 Feb 22;12(2):e1005880. doi: 10.1371/journal.pgen.1005880. eCollection 2016 Feb. [PMID: 26901136]

A-33. Weren RD, Venkatachalam R, Cazier JB, Farin HF, Kets CM, de Voer RM, Vreede L, Verwiel ET, van Asseldonk M, Kamping EJ, Kiemeney LA, Neveling K, Aben KK, Carvajal-Carmona L, Nagtegaal ID, Schackert HK, Clevers H, van de Wetering M, Tomlinson IP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A, Kuiper RP. Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
J Pathol. 2015 Jun;236(2):155-64. doi: 10.1002/path.4520. Epub 2015 Mar 26. [PMID: 25712196]

A-34. Spier I, Holzapfel S, Altmuller J, Zhao B, Horpaopan S, Vogt S, Chen S, Morak M, Raeder S, Kayser K, Stienen D, Adam R, Nurnberg P, Plotz G, Holinski-Feder E, Lifton RP, Thiele H, Hoffmann P, Steinke V, Aretz S. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
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A-83. Gorgens H, Kruger S, Kuhlisch E, Pagenstecher C, Hohl R, Schackert HK, Muller A. Microsatellite stable colorectal cancers in clinically suspected hereditary nonpolyposis colorectal cancer patients without vertical transmission of disease are unlikely to be caused by biallelic germline mutations in MYH.
J Mol Diagn. 2006 May;8(2):178-82. [PMID: 16645203]

A-84. Goecke T, Schulmann K, Engel C, Holinski-Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, Friedrichs N, Propping P, Kruger S, Gebert J, Schmiegel W, Rueschoff J, Loeffler M, Moeslein G. Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.
J Clin Oncol. 2006 Sep 10;24(26):4285-92. Epub 2006 Aug 14. [PMID: 16908935]

A-85. Engel C, Forberg J, Holinski-Feder E, Pagenstecher C, Plaschke J, Kloor M, Poremba C, Pox CP, Ruschoff J, Keller G, Dietmaier W, Rummele P, Friedrichs N, Mangold E, Buettner R, Schackert HK, Kienle P, Stemmler S, Moeslein G, Loeffler M. Novel strategy for optimal sequential application of clinical criteria, immunohistochemistry and microsatellite analysis in the diagnosis of hereditary nonpolyposis colorectal cancer.
Int J Cancer. 2006 Jan 1;118(1):115-22. [PMID: 16003745]

A-86. Woerner SM, Kloor M, Mueller A, Rueschoff J, Friedrichs N, Buettner R, Buzello M, Kienle P, Knaebel HP, Kunstmann E, Pagenstecher C, Schackert HK, Moslein G, Vogelsang H, von Knebel Doeberitz M, Gebert JF. Microsatellite instability of selective target genes in HNPCC-associated colon adenomas.
Oncogene. 2005 Apr 7;24(15):2525-35. [PMID: 15735733]

A-87. Schulmann K, Brasch FE, Kunstmann E, Engel C, Pagenstecher C, Vogelsang H, Kruger S, Vogel T, Knaebel HP, Ruschoff J, Hahn SA, Knebel-Doeberitz MV, Moeslein G, Meltzer SJ, Schackert HK, Tympner C, Mangold E, Schmiegel W. HNPCC-associated small bowel cancer: clinical and molecular characteristics.
Gastroenterology. 2005 Mar;128(3):590-9. [PMID: 15765394]

A-88. Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomaki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nystrom M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology. 2005 Aug;129(2):537-49. [PMID: 16083711]

A-89. Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski-Feder E, Muller-Koch Y, Keller G, Schackert HK, Kruger S, Goecke T, Moeslein G, Kloor M, Gebert J, Kunstmann E, Schulmann K, Ruschoff J, Propping P. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Int J Cancer. 2005 Sep 20;116(5):692-702. [PMID: 15849733]

A-90. Kruger S, Silber AS, Engel C, Gorgens H, Mangold E, Pagenstecher C, Holinski-Feder E, von Knebel Doeberitz M, Moeslein G, Dietmaier W, Stemmler S, Friedl W, Ruschoff J, Schackert HK. Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of hereditary non-polyposis colorectal cancer: a case-control study.
Lancet Oncol. 2005 Aug;6(8):566-72. [PMID: 16054567]

A-91. Kruger S, Bier A, Engel C, Mangold E, Pagenstecher C, von Knebel Doeberitz M, Holinski-Feder E, Moeslein G, Schulmann K, Plaschke J, Ruschoff J, Schackert HK. The p53 codon 72 variation is associated with the age of onset of hereditary non-polyposis colorectal cancer (HNPCC).
J Med Genet. 2005 Oct;42(10):769-73. [PMID: 16199549]

A-92. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
J Natl Cancer Inst. 2004 Feb 18;96(4):261-8. [PMID: 14970275]

A-93. Ruschoff J, Roggendorf B, Brasch F, Mathiak M, Aust DE, Plaschke J, Mueller W, Poremba C, Kloor M, Keller G, Muders M, Blasenbreu-Vogt S, Rummele P, Muller A, Buttner R. [Molecular pathology in hereditary colorectal cancer. Recommendations of the Collaborative German Study Group on hereditary colorectal cancer funded by the German Cancer Aid (Deutsche Krebshilfe)].
Pathologe. 2004 May;25(3):178-92. [PMID: 15138699]

A-94. Plaschke J, Kruger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Moslein G, Ruschoff J, Engel C, Evans G, Schackert HK. Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.
Hum Mutat. 2004 Mar;23(3):285. [PMID: 14974087]

A-95. Plaschke J, Engel C, Kruger S, Holinski-Feder E, Pagenstecher C, Mangold E, Moeslein G, Schulmann K, Gebert J, von Knebel Doeberitz M, Ruschoff J, Loeffler M, Schackert HK. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.
J Clin Oncol. 2004 Nov 15;22(22):4486-94. Epub 2004 Oct 13. [PMID: 15483016]

A-96. Holinski-Feder E, Muller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohsea P, Murken J, Meitinger T. DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2.
J Biochem Biophys Methods. 2001 Jan 30;47(1-2):21-32. [PMID: 11179758]

B) Weitere eigene Publikationen der Konsortialpartner:

B-1. Suerink M, Wimmer K, Brugieres L, Colas C, Gallon R, Ripperger T, Benusiglio PR, Bleiker EMA, Ghorbanoghli Z, Goldberg Y, Hardwick JCH, Kloor M, le Mentec M, Muleris M, Pineda M, Ruiz-Ponte C, Vasen HFA.
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.
Fam Cancer. 2021 Jan;20(1):67-73. doi: 10.1007/s10689-020-00194-1. Epub 2020 Jul 2. [PMID: 32613597]

B-2. Spier I, Huneburg R, Aretz S.
[Gastrointestinal polyposis syndromes].
Internist (Berl). 2021 Feb;62(2):133-144. doi: 10.1007/s00108-020-00903-z. [PMID: 33237439]

B-3. Seppala TT, Latchford A, Negoi I, Sampaio Soares A, Jimenez-Rodriguez R, Sanchez-Guillen L, Evans DG, Ryan N, Crosbie EJ, Dominguez-Valentin M, Burn J, Kloor M, Knebel Doeberitz MV, Duijnhoven F, Quirke P, Sampson JR, Moller P, Moslein G.
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.
Br J Surg. 2021 May 27;108(5):484-498. doi: 10.1002/bjs.11902. [PMID: 34043773]

B-4. Noepel-Duennebacke S, Juette H, Schulmann K, Graeven U, Porschen R, Stoehlmacher J, Hegewisch-Becker S, Raulf A, Arnold D, Reinacher-Schick A, Tannapfel A.
Microsatellite instability (MSI-H) is associated with a high immunoscore but not with PD-L1 expression or increased survival in patients (pts.) with metastatic colorectal cancer (mCRC) treated with oxaliplatin (ox) and fluoropyrimidine (FP) with and without bevacizumab (bev): a pooled analysis of the AIO KRK 0207 and RO91 trials.
J Cancer Res Clin Oncol. 2021 Oct;147(10):3063-3072. doi: 10.1007/s00432-021-03559-w. Epub 2021 Mar 6. [PMID: 33675399]

B-5. Le Duc D, Hentschel J, Neuser S, Stiller M, Meier C, Jager E, Abou Jamra R, Platzer K, Monecke A, Ziemer M, Markovic A, Blaker H, Lemke JR.
In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.
Eur J Hum Genet. 2021 Mar;29(3):489-494. doi: 10.1038/s41431-020-00781-x. Epub 2020 Dec 15. [PMID: 33319852]

B-6. Krause J, Grabsch HI, Kloor M, Jendrusch M, Echle A, Buelow RD, Boor P, Luedde T, Brinker TJ, Trautwein C, Pearson AT, Quirke P, Jenniskens J, Offermans K, van den Brandt PA, Kather JN.
Deep learning detects genetic alterations in cancer histology generated by adversarial networks.
J Pathol. 2021 May;254(1):70-79. doi: 10.1002/path.5638. Epub 2021 Mar 16. [PMID: 33565124]

B-7. Haupt S, Zeilmann A, Ahadova A, Blaker H, von Knebel Doeberitz M, Kloor M, Heuveline V.
Mathematical modeling of multiple pathways in colorectal carcinogenesis using dynamical systems with Kronecker structure.
PLoS Comput Biol. 2021 May 18;17(5):e1008970. doi: 10.1371/journal.pcbi.1008970. eCollection 2021 May. [PMID: 34003820]

B-8. Forster A, Brand F, Banan R, Huneburg R, Weber CAM, Ewert W, Kronenberg J, Previti C, Elyan N, Beyer U, Martens H, Hong B, Brasen JH, Erbersdobler A, Krauss JK, Stangel M, Samii A, Wolf S, Preller M, Aretz S, Wiese B, Hartmann C, Weber RG.
Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.
Acta Neuropathol. 2021 Jul;142(1):191-210. doi: 10.1007/s00401-021-02307-1. Epub 2021 Apr 30. [PMID: 33929593]

B-9. Becker JP, Helm D, Rettel M, Stein F, Hernandez-Sanchez A, Urban K, Gebert J, Kloor M, Neu-Yilik G, von Knebel Doeberitz M, Hentze MW, Kulozik AE.
NMD inhibition by 5-azacytidine augments presentation of immunogenic frameshift-derived neoepitopes.
iScience. 2021 Apr 1;24(4):102389. doi: 10.1016/j.isci.2021.102389. eCollection 2021 Apr 23. [PMID: 33981976]

B-10. Reyes GX, Zhao B, Schmidt TT, Gries K, Kloor M, Hombauer H.
Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function.
Commun Biol. 2020 Dec 10;3(1):751. doi: 10.1038/s42003-020-01481-4. [PMID: 33303966]

B-11. Pantelis D, Lingohr P, Hueneburg R, Spier I, Vilz T, Lau JF, Nattermann J, Aretz S, Strassburg CP, Kalff JC.
[Outcomes after Prophylactic Total Gastrectomy for Hereditary Diffuse Gastric Cancer].
Zentralbl Chir. 2020 Feb;145(1):41-47. doi: 10.1055/a-0646-4382. Epub 2018 Aug 1. [PMID: 30068014]

B-12. Michalak M, Katzenmaier EM, Roeckel N, Woerner SM, Fuchs V, Warnken U, Yuan YP, Bork P, Neu-Yilik G, Kulozik A, von Knebel Doeberitz M, Kloor M, Kopitz J, Gebert J.
(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.
Int J Mol Sci. 2020 Jul 23;21(15). pii: ijms21155234. doi: 10.3390/ijms21155234. [PMID: 32718059]

B-13. Marwitz T, Huneburg R, Spier I, Lau JF, Kristiansen G, Lingohr P, Kalff JC, Aretz S, Nattermann J, Strassburg CP.
Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.
Cancers (Basel). 2020 Dec 11;12(12). pii: cancers12123726. doi: 10.3390/cancers12123726. [PMID: 33322525]

B-14. Kloor M, Reuschenbach M, Pauligk C, Karbach J, Rafiyan MR, Al-Batran SE, Tariverdian M, Jager E, von Knebel Doeberitz M.
A Frameshift Peptide Neoantigen-Based Vaccine for Mismatch Repair-Deficient Cancers: A Phase I/IIa Clinical Trial.
Clin Cancer Res. 2020 Sep 1;26(17):4503-4510. doi: 10.1158/1078-0432.CCR-19-3517. Epub 2020 Jun 15. [PMID: 32540851]

B-15. Huneburg R, Heling D, Kaczmarek DJ, van Heteren P, Olthaus M, Fimmers R, Berger M, Coch C, Lau JF, Kristiansen G, Weismuller TJ, Spier I, Aretz S, Strassburg CP, Nattermann J.
Dye chromoendoscopy leads to a higher adenoma detection in the duodenum and stomach in patients with familial adenomatous polyposis.
Endosc Int Open. 2020 Oct;8(10):E1308-E1314. doi: 10.1055/a-1220-6699. Epub 2020 Sep 22. [PMID: 33015332]

B-16. Hoffmeister M, Blaker H, Jansen L, Alwers E, Amitay EL, Carr PR, Kloor M, Herpel E, Roth W, Chang-Claude J, Brenner H.
Colonoscopy and Reduction of Colorectal Cancer Risk by Molecular Tumor Subtypes: A Population-Based Case-Control Study.
Am J Gastroenterol. 2020 Dec;115(12):2007-2016. doi: 10.14309/ajg.0000000000000819. [PMID: 32858564]

B-17. Gonzalez-Acosta M, Marin F, Puliafito B, Bonifaci N, Fernandez A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-Garcia P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lazaro C, Rueda D, Wimmer K, Capella G, Pineda M.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. [PMID: 31494577]

B-18. Burke CA, Dekker E, Lynch P, Samadder NJ, Balaguer F, Huneburg R, Burn J, Castells A, Gallinger S, Lim R, Stoffel EM, Gupta S, Henderson A, Kallenberg FG, Kanth P, Roos VH, Ginsberg GG, Sinicrope FA, Strassburg CP, Van Cutsem E, Church J, Lalloo F, Willingham FF, Wise PE, Grady WM, Ford M, Weiss JM, Gryfe R, Rustgi AK, Syngal S, Cohen A.
Eflornithine plus Sulindac for Prevention of Progression in Familial Adenomatous Polyposis.
N Engl J Med. 2020 Sep 10;383(11):1028-1039. doi: 10.1056/NEJMoa1916063. [PMID: 32905675]

B-19. Bohaumilitzky L, von Knebel Doeberitz M, Kloor M, Ahadova A.
Implications of Hereditary Origin on the Immune Phenotype of Mismatch Repair-Deficient Cancers: Systematic Literature Review.
J Clin Med. 2020 Jun 4;9(6). pii: jcm9061741. doi: 10.3390/jcm9061741. [PMID: 32512823]

B-20. Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG, Genuardi M, Hes FJ, Huneburg R, Jarvinen H, Lalloo F, Moeslein G, Renkonen-Sinisalo L, Resta N, Spier I, Varvara D, Vasen H, Latchford AR, Heinimann K.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Genet Med. 2020 Sep;22(9):1524-1532. doi: 10.1038/s41436-020-0826-1. Epub 2020 May 13. [PMID: 32398773]

B-21. Ballhausen A, Przybilla MJ, Jendrusch M, Haupt S, Pfaffendorf E, Seidler F, Witt J, Hernandez Sanchez A, Urban K, Draxlbauer M, Krausert S, Ahadova A, Kalteis MS, Pfuderer PL, Heid D, Stichel D, Gebert J, Bonsack M, Schott S, Blaker H, Seppala T, Mecklin JP, Ten Broeke S, Nielsen M, Heuveline V, Krzykalla J, Benner A, Riemer AB, von Knebel Doeberitz M, Kloor M.
The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution.
Nat Commun. 2020 Sep 21;11(1):4740. doi: 10.1038/s41467-020-18514-5. [PMID: 32958755]

B-22. Arnold A, Tronser M, Sers C, Ahadova A, Endris V, Mamlouk S, Horst D, Mobs M, Bischoff P, Kloor M, Blaker H.
The majority of beta-catenin mutations in colorectal cancer is homozygous.
BMC Cancer. 2020 Oct 28;20(1):1038. doi: 10.1186/s12885-020-07537-2. [PMID: 33115416]

B-23. Suerink M, Rodriguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17. [PMID: 31204389]

B-24. Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugires L, Legius E, Wimmer K.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. [PMID: 30415209]

B-25. Pfuderer PL, Ballhausen A, Seidler F, Stark HJ, Grabe N, Frayling IM, Ager A, von Knebel Doeberitz M, Kloor M, Ahadova A.
High endothelial venules are associated with microsatellite instability, hereditary background and immune evasion in colorectal cancer.
Br J Cancer. 2019 Aug;121(5):395-404. doi: 10.1038/s41416-019-0514-6. Epub 2019 Jul 30. [PMID: 31358939]

B-26. Kloth K, Renner S, Burmester G, Steinemann D, Pabst B, Lorenz B, Simon R, Kolbe V, Hempel M, Rosenberger G.
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Clin Genet. 2019 Jul;96(1):85-90. doi: 10.1111/cge.13557. Epub 2019 May 16. [PMID: 31044419]

B-27. Kloor M.
Resistance of the stable-towards more precise prediction of response to immune checkpoint blockade in microsatellite-unstable cancer patients.
Ann Transl Med. 2019 Nov;7(21):603. doi: 10.21037/atm.2019.10.29. [PMID: 32047764]

B-28. Haag GM, Czink E, Ahadova A, Schmidt T, Sisic L, Blank S, Heger U, Apostolidis L, Berger AK, Springfeld C, Lasitschka F, Jager D, von Knebel Doeberitz M, Kloor M.
Prognostic significance of microsatellite-instability in gastric and gastroesophageal junction cancer patients undergoing neoadjuvant chemotherapy.
Int J Cancer. 2019 Apr 1;144(7):1697-1703. doi: 10.1002/ijc.32030. Epub 2019 Jan 4. [PMID: 30499151]

B-29. Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda N, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Borger ME, Popp I, Lang A, Spier I, Huneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capella G, Sjursen W, Hoberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. [PMID: 30753826]

B-30. Gallon R, Muhlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6. [PMID: 30740824]

B-31. Blaker H, Alwers E, Arnold A, Herpel E, Tagscherer KE, Roth W, Jansen L, Walter V, Kloor M, Chang-Claude J, Brenner H, Hoffmeister M.
The Association Between Mutations in BRAF and Colorectal Cancer-Specific Survival Depends on Microsatellite Status and Tumor Stage.
Clin Gastroenterol Hepatol. 2019 Feb;17(3):455-462.e6. doi: 10.1016/j.cgh.2018.04.015. Epub 2018 Apr 13. [PMID: 29660527]

B-32. Amitay EL, Carr PR, Jansen L, Walter V, Roth W, Herpel E, Kloor M, Blaker H, Chang-Claude J, Brenner H, Hoffmeister M.
Association of Aspirin and Nonsteroidal Anti-Inflammatory Drugs With Colorectal Cancer Risk by Molecular Subtypes.
J Natl Cancer Inst. 2019 May 1;111(5):475-483. doi: 10.1093/jnci/djy170. [PMID: 30388256]

B-33. Alwers E, Blaker H, Walter V, Jansen L, Kloor M, Arnold A, Sieber-Frank J, Herpel E, Tagscherer KE, Roth W, Chang-Claude J, Brenner H, Hoffmeister M.
External validation of molecular subtype classifications of colorectal cancer based on microsatellite instability, CIMP, BRAF and KRAS.
BMC Cancer. 2019 Jul 11;19(1):681. doi: 10.1186/s12885-019-5842-7. [PMID: 31296182]

B-34. Tesch VK, H IJ, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG.
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018. [PMID: 30013564]

B-35. Ozcan M, Janikovits J, von Knebel Doeberitz M, Kloor M.
Complex pattern of immune evasion in MSI colorectal cancer.
Oncoimmunology. 2018 Mar 26;7(7):e1445453. doi: 10.1080/2162402X.2018.1445453. eCollection 2018. [PMID: 29900056]

B-36. Janikovits J, Muller M, Krzykalla J, Korner S, Echterdiek F, Lahrmann B, Grabe N, Schneider M, Benner A, Doeberitz MVK, Kloor M.
High numbers of PDCD1 (PD-1)-positive T cells and B2M mutations in microsatellite-unstable colorectal cancer.
Oncoimmunology. 2017 Nov 6;7(2):e1390640. doi: 10.1080/2162402X.2017.1390640. eCollection 2018. [PMID: 29308317]

B-37. Bochtler T, Haag GM, Schott S, Kloor M, Kramer A, Muller-Tidow C.
Hematological Malignancies in Adults With a Family Predisposition.
Dtsch Arztebl Int. 2018 Dec 14;115(50):848-854. doi: 10.3238/arztebl.2018.0848. [PMID: 30722840]

B-38. Ahadova A, Gallon R, Gebert J, Ballhausen A, Endris V, Kirchner M, Stenzinger A, Burn J, von Knebel Doeberitz M, Blaker H, Kloor M.
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.
Int J Cancer. 2018 Jul 1;143(1):139-150. doi: 10.1002/ijc.31300. Epub 2018 Feb 23. [PMID: 29424427]

B-39. Schmiegel W, Scott RJ, Dooley S, Lewis W, Meldrum CJ, Pockney P, Draganic B, Smith S, Hewitt C, Philimore H, Lucas A, Shi E, Namdarian K, Chan T, Acosta D, Ping-Chang S, Tannapfel A, Reinacher-Schick A, Uhl W, Teschendorf C, Wolters H, Stern J, Viebahn R, Friess H, Janssen KP, Nitsche U, Slotta-Huspenina J, Pohl M, Vangala D, Baraniskin A, Dockhorn-Dworniczak B, Hegewisch-Becker S, Ronga P, Edelstein DL, Jones FS, Hahn S, Fox SB.
Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing.
Mol Oncol. 2017 Feb;11(2):208-219. doi: 10.1002/1878-0261.12023. Epub 2017 Jan 20. [PMID: 28106345]

B-40. Maletzki C, Huehns M, Bauer I, Ripperger T, Mork MM, Vilar E, Klocking S, Zettl H, Prall F, Linnebacher M.
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Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30. [PMID: 28218421]

B-41. Kakkassery V, Schroers R, Coupland SE, Wunderlich MI, Schargus M, Heinz C, Wasmuth S, Heiligenhaus A, Ahle G, Lenoble P, Schlegel U, Schmiegel W, Dick HB, Baraniskin A.
Vitreous microRNA levels as diagnostic biomarkers for vitreoretinal lymphoma.
Blood. 2017 Jun 8;129(23):3130-3133. doi: 10.1182/blood-2017-01-765180. Epub 2017 Apr 7. [PMID: 28389463]

B-42. Horpaopan S, Kirfel J, Peters S, Kloth M, Huneburg R, Altmuller J, Drichel D, Odenthal M, Kristiansen G, Strassburg C, Nattermann J, Hoffmann P, Nurnberg P, Buttner R, Thiele H, Kahl P, Spier I, Aretz S.
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
Hered Cancer Clin Pract. 2017 Nov 29;15:22. doi: 10.1186/s13053-017-0082-9. eCollection 2017. [PMID: 29213343]

B-43. Czink E, Kloor M, Goeppert B, Frohling S, Uhrig S, Weber TF, Meinel J, Sutter C, Weiss KH, Schirmacher P, Doeberitz MVK, Jager D, Springfeld C.
Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer.
Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: mcs.a001974. doi: 10.1101/mcs.a001974. Print 2017 Sep. [PMID: 28619747]

B-44. Chen HH, Handel N, Ngeow J, Muller J, Huhn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Blaser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH.
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18. [PMID: 27477328]

B-45. Buchholz M, Majchrzak-Stiller B, Hahn S, Vangala D, Pfirrmann RW, Uhl W, Braumann C, Chromik AM.
Innovative substance 2250 as a highly promising anti-neoplastic agent in malignant pancreatic carcinoma - in vitro and in vivo.
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B-46. Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capella Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M.
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.
Genet Med. 2016 Apr;18(4):405-9. doi: 10.1038/gim.2015.83. Epub 2015 Jun 25. [PMID: 26110232]

B-47. Schafgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiss M, Aretz S, Strom TM, Wieczorek D, Engels H.
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
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B-48. Pantelis D, Huneburg R, Adam R, Holzapfel S, Gevensleben H, Nattermann J, Strassburg CP, Aretz S, Kalff JC.
Prophylactic total gastrectomy in the management of hereditary tumor syndromes.
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B-49. Kloor M, von Knebel Doeberitz M.
The Immune Biology of Microsatellite-Unstable Cancer.
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B-50. Huneburg R, Marwitz T, van Heteren P, Weismuller TJ, Trebicka J, Adam R, Aretz S, Perez Bouza A, Pantelis D, Kalff JC, Nattermann J, Strassburg CP.
Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients.
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B-51. Echterdiek F, Janikovits J, Staffa L, Muller M, Lahrmann B, Fruhschutz M, Hartog B, Nelius N, Benner A, Tariverdian M, von Knebel Doeberitz M, Grabe N, Kloor M.
Low density of FOXP3-positive T cells in normal colonic mucosa is related to the presence of beta2-microglobulin mutations in Lynch syndrome-associated colorectal cancer.
Oncoimmunology. 2015 Nov 11;5(2):e1075692. doi: 10.1080/2162402X.2015.1075692. eCollection 2016 Feb. [PMID: 27057447]

B-52. Al-Batran SE, Hofheinz RD, Pauligk C, Kopp HG, Haag GM, Luley KB, Meiler J, Homann N, Lorenzen S, Schmalenberg H, Probst S, Koenigsmann M, Egger M, Prasnikar N, Caca K, Trojan J, Martens UM, Block A, Fischbach W, Mahlberg R, Clemens M, Illerhaus G, Zirlik K, Behringer DM, Schmiegel W, Pohl M, Heike M, Ronellenfitsch U, Schuler M, Bechstein WO, Konigsrainer A, Gaiser T, Schirmacher P, Hozaeel W, Reichart A, Goetze TO, Sievert M, Jager E, Monig S, Tannapfel A.
Histopathological regression after neoadjuvant docetaxel, oxaliplatin, fluorouracil, and leucovorin versus epirubicin, cisplatin, and fluorouracil or capecitabine in patients with resectable gastric or gastro-oesophageal junction adenocarcinoma (FLOT4-AIO): results from the phase 2 part of a multicentre, open-label, randomised phase 2/3 trial.
Lancet Oncol. 2016 Dec;17(12):1697-1708. doi: 10.1016/S1470-2045(16)30531-9. Epub 2016 Oct 22. [PMID: 27776843]

B-53. Ahadova A, von Knebel Doeberitz M, Blaker H, Kloor M.
CTNNB1-mutant colorectal carcinomas with immediate invasive growth: a model of interval cancers in Lynch syndrome.
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B-54. Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S.
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Am J Hum Genet. 2016 Aug 4;99(2):337-51. doi: 10.1016/j.ajhg.2016.06.015. Epub 2016 Jul 28. [PMID: 27476653]

B-55. Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Forsti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Castells A, Castellvi-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS.
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
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B-56. ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capella Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT.
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.
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B-57. Surmann EM, Voigt AY, Michel S, Bauer K, Reuschenbach M, Ferrone S, von Knebel Doeberitz M, Kloor M.
Association of high CD4-positive T cell infiltration with mutations in HLA class II-regulatory genes in microsatellite-unstable colorectal cancer.
Cancer Immunol Immunother. 2015 Mar;64(3):357-66. doi: 10.1007/s00262-014-1638-4. Epub 2014 Dec 2. [PMID: 25445815]

B-58. Staffa L, Echterdiek F, Nelius N, Benner A, Werft W, Lahrmann B, Grabe N, Schneider M, Tariverdian M, von Knebel Doeberitz M, Blaker H, Kloor M.
Mismatch repair-deficient crypt foci in Lynch syndrome--molecular alterations and association with clinical parameters.
PLoS One. 2015 Mar 27;10(3):e0121980. doi: 10.1371/journal.pone.0121980. eCollection 2015. [PMID: 25816162]

B-59. Schneider R, Schneider C, Dalchow A, Jakobeit C, Moslein G.
Prophylactic surgery in familial adenomatous polyposis (FAP)--a single surgeon's short- and long-term experience with hand-assisted proctocolectomy and smaller J-pouches.
Int J Colorectal Dis. 2015 Aug;30(8):1109-15. doi: 10.1007/s00384-015-2223-9. Epub 2015 May 3. [PMID: 25935449]

B-60. Schneider R, Schneider C, Buttner R, Reinacher-Schick A, Tannapfel A, Furst A, Ruschoff J, Jakobeit C, Royer-Pokora B, Moslein G.
[Colorectal Carcinoma with Suspected Lynch Syndrome: A Multidisciplinary Algorithm].
Zentralbl Chir. 2015 Dec;140(6):591-9. doi: 10.1055/s-0034-1368480. Epub 2014 Nov 5. [PMID: 25372301]

B-61. Schneider R, Furst A, Moslein G.
[Gender-specific aspects of Lynch syndrome--an update].
Z Gastroenterol. 2015 Aug;53(8):789-93. doi: 10.1055/s-0035-1553343. Epub 2015 Aug 18. [PMID: 26284327]

B-62. Mazur PK, Herner A, Mello SS, Wirth M, Hausmann S, Sanchez-Rivera FJ, Lofgren SM, Kuschma T, Hahn SA, Vangala D, Trajkovic-Arsic M, Gupta A, Heid I, Noel PB, Braren R, Erkan M, Kleeff J, Sipos B, Sayles LC, Heikenwalder M, Hessmann E, Ellenrieder V, Esposito I, Jacks T, Bradner JE, Khatri P, Sweet-Cordero EA, Attardi LD, Schmid RM, Schneider G, Sage J, Siveke JT.
Combined inhibition of BET family proteins and histone deacetylases as a potential epigenetics-based therapy for pancreatic ductal adenocarcinoma.
Nat Med. 2015 Oct;21(10):1163-71. doi: 10.1038/nm.3952. Epub 2015 Sep 21. [PMID: 26390243]

B-63. Hinrichsen I, Schafer D, Langer D, Koger N, Wittmann M, Aretz S, Steinke V, Holzapfel S, Trojan J, Konig R, Zeuzem S, Brieger A, Plotz G.
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
Carcinogenesis. 2015 Feb;36(2):202-11. doi: 10.1093/carcin/bgu239. Epub 2014 Dec 4. [PMID: 25477341]

B-64. Aretz S, Vasen HF, Olschwang S.
Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.
Eur J Hum Genet. 2015 Jun;23(6). pii: ejhg2014193. doi: 10.1038/ejhg.2014.193. Epub 2014 Sep 24. [PMID: 25248397]

B-65. Al-Nomani L, Friedrichs J, Schule R, Buttner R, Friedrichs N.
Tumoral expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer.
Pathol Res Pract. 2015 Feb;211(2):171-4. doi: 10.1016/j.prp.2014.12.001. Epub 2014 Dec 11. [PMID: 25554651]

B-66. Trautmann M, Sievers E, Aretz S, Kindler D, Michels S, Friedrichs N, Renner M, Kirfel J, Steiner S, Huss S, Koch A, Penzel R, Larsson O, Kawai A, Tanaka S, Sonobe H, Waha A, Schirmacher P, Mechtersheimer G, Wardelmann E, Buttner R, Hartmann W.
SS18-SSX fusion protein-induced Wnt/beta-catenin signaling is a therapeutic target in synovial sarcoma.
Oncogene. 2014 Oct 16;33(42):5006-16. doi: 10.1038/onc.2013.443. Epub 2013 Oct 28. [PMID: 24166495]

B-67. Schurmanns K, Gelos M, Felder G, Schneider R, Moslein G.
[Can an online risk assessment tool for identification of hereditary colorectal cancer reach the at-risk population and influence screening compliance?].
Dtsch Med Wochenschr. 2014 May;139(18):935-40. doi: 10.1055/s-0034-1369981. Epub 2014 Apr 23. [PMID: 24760714]

B-68. Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wolfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Boland CR, Kumanogoh A, Sill H.
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Nat Commun. 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191. [PMID: 25307848]

B-69. Schneider R, Schneider C, Jakobeit C, Furst A, Moslein G.
Gender-Specific Aspects of Lynch Syndrome and Familial Adenomatous Polyposis.
Viszeralmedizin. 2014 Apr;30(2):82-8. doi: 10.1159/000360839. [PMID: 26288582]

B-70. Reuschenbach M, Dorre J, Waterboer T, Kopitz J, Schneider M, Hoogerbrugge N, Jager E, Kloor M, von Knebel Doeberitz M.
A multiplex method for the detection of serum antibodies against in silico-predicted tumor antigens.
Cancer Immunol Immunother. 2014 Dec;63(12):1251-9. doi: 10.1007/s00262-014-1595-y. Epub 2014 Aug 21. [PMID: 25143232]

B-71. Pollett WG, Marion K, Moeslein G, Schneider C, Parry S, Veysey K, Bissett IP, Jones I, Macrae F.
Quality of life after surgery in individuals with familial colorectal cancer: does extended surgery have an adverse impact?
ANZ J Surg. 2014 May;84(5):359-64. doi: 10.1111/ans.12336. Epub 2013 Aug 7. [PMID: 23924343]

B-72. Nopel-Dunnebacke S, Schulmann K, Reinacher-Schick A, Porschen R, Schmiegel W, Tannapfel A, Graeven U.
Prognostic value of microsatellite instability and p53 expression in metastatic colorectal cancer treated with oxaliplatin and fluoropyrimidine-based chemotherapy.
Z Gastroenterol. 2014 Dec;52(12):1394-401. doi: 10.1055/s-0034-1366781. Epub 2014 Dec 4. [PMID: 25474278]

B-73. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Moller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
Fam Cancer. 2014 Mar;13(1):57-63. doi: 10.1007/s10689-013-9674-3. [PMID: 23934601]

B-74. Morak M, Heidenreich B, Keller G, Hampel H, Laner A, de la Chapelle A, Holinski-Feder E.
Biallelic MUTYH mutations can mimic Lynch syndrome.
Eur J Hum Genet. 2014 Nov;22(11):1334-7. doi: 10.1038/ejhg.2014.15. Epub 2014 Feb 12. [PMID: 24518836]

B-75. Hinrichsen I, Ernst BP, Nuber F, Passmann S, Schafer D, Steinke V, Friedrichs N, Plotz G, Zeuzem S, Brieger A.
Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.
Mol Cancer. 2014 Jan 24;13:11. doi: 10.1186/1476-4598-13-11. [PMID: 24456667]

B-76. Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M.
MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
Eur J Hum Genet. 2014 Jul;22(7):923-9. doi: 10.1038/ejhg.2012.309. Epub 2013 Jan 30. [PMID: 23361220]

B-77. Zaba O, Holbe D, Aretz S, Grohe C.
LKB1 mutant in a KRAS activated adenocarcinoma of the lung associated with Peutz-Jeghers syndrome: a case report.
Lung Cancer. 2013 Nov;82(2):368-9. doi: 10.1016/j.lungcan.2013.08.019. Epub 2013 Sep 2. [PMID: 24054548]

B-78. Smith CG, West H, Harris R, Idziaszczyk S, Maughan TS, Kaplan R, Richman S, Quirke P, Seymour M, Moskvina V, Steinke V, Propping P, Hes FJ, Wijnen J, Cheadle JP.
Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.
J Natl Cancer Inst. 2013 Aug 21;105(16):1249-53. doi: 10.1093/jnci/djt183. Epub 2013 Jul 12. [PMID: 23852950]

B-79. Schneider R, Bartsch DK, Schlosser K.
Relevance of bilateral cervical thymectomy in patients with renal hyperparathyroidism: analysis of 161 patients undergoing reoperative parathyroidectomy.
World J Surg. 2013 Sep;37(9):2155-61. doi: 10.1007/s00268-013-2091-9. [PMID: 23674256]

B-80. Schmiegel W, Reinacher-Schick A, Arnold D, Kubicka S, Freier W, Dietrich G, Geissler M, Hegewisch-Becker S, Tannapfel A, Pohl M, Hinke A, Schmoll HJ, Graeven U.
Capecitabine/irinotecan or capecitabine/oxaliplatin in combination with bevacizumab is effective and safe as first-line therapy for metastatic colorectal cancer: a randomized phase II study of the AIO colorectal study group.
Ann Oncol. 2013 Jun;24(6):1580-7. doi: 10.1093/annonc/mdt028. Epub 2013 Mar 4. [PMID: 23463625]

B-81. Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.
Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.
Hum Mutat. 2013 Jun;34(6):923-4. doi: 10.1002/humu.22310. Epub 2013 Mar 28. [PMID: 23554108]

B-82. Rahner N, Steinke V, Schlegelberger B, Eisinger F, Hutter P, Olschwang S.
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.
Eur J Hum Genet. 2013 Jan;21(1). pii: ejhg2012164. doi: 10.1038/ejhg.2012.164. Epub 2012 Aug 15. [PMID: 22892529]

B-83. Pox C, Aretz S, Bischoff SC, Graeven U, Hass M, Heussner P, Hohenberger W, Holstege A, Hubner J, Kolligs F, Kreis M, Lux P, Ockenga J, Porschen R, Post S, Rahner N, Reinacher-Schick A, Riemann JF, Sauer R, Sieg A, Scheppach W, Schmitt W, Schmoll HJ, Schulmann K, Tannapfel A, Schmiegel W.
[S3-guideline colorectal cancer version 1.0].
Z Gastroenterol. 2013 Aug;51(8):753-854. doi: 10.1055/s-0033-1350264. Epub 2013 Aug 16. [PMID: 23955142]

B-84. Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A.
MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.
Int J Cancer. 2013 Mar 1;132(5):1060-9. doi: 10.1002/ijc.27761. Epub 2012 Aug 28. [PMID: 22865608]

B-85. de Vos tot Nederveen Cappel WH, Jarvinen HJ, Lynch PM, Engel C, Mecklin JP, Vasen HF.
Colorectal surveillance in Lynch syndrome families.
Fam Cancer. 2013 Jun;12(2):261-5. doi: 10.1007/s10689-013-9631-1. [PMID: 23525799]

B-86. Capper D, Voigt A, Bozukova G, Ahadova A, Kickingereder P, von Deimling A, von Knebel Doeberitz M, Kloor M.
BRAF V600E-specific immunohistochemistry for the exclusion of Lynch syndrome in MSI-H colorectal cancer.
Int J Cancer. 2013 Oct 1;133(7):1624-30. doi: 10.1002/ijc.28183. Epub 2013 Apr 25. [PMID: 23553055]

B-87. Bauer K, Nelius N, Reuschenbach M, Koch M, Weitz J, Steinert G, Kopitz J, Beckhove P, Tariverdian M, von Knebel Doeberitz M, Kloor M.
T cell responses against microsatellite instability-induced frameshift peptides and influence of regulatory T cells in colorectal cancer.
Cancer Immunol Immunother. 2013 Jan;62(1):27-37. doi: 10.1007/s00262-012-1303-8. Epub 2012 Jun 23. [PMID: 22729559]

B-88. Baraniskin A, Nopel-Dunnebacke S, Ahrens M, Jensen SG, Zollner H, Maghnouj A, Wos A, Mayerle J, Munding J, Kost D, Reinacher-Schick A, Liffers S, Schroers R, Chromik AM, Meyer HE, Uhl W, Klein-Scory S, Weiss FU, Stephan C, Schwarte-Waldhoff I, Lerch MM, Tannapfel A, Schmiegel W, Andersen CL, Hahn SA.
Circulating U2 small nuclear RNA fragments as a novel diagnostic biomarker for pancreatic and colorectal adenocarcinoma.
Int J Cancer. 2013 Jan 15;132(2):E48-57. doi: 10.1002/ijc.27791. Epub 2012 Sep 14. [PMID: 22907602]

B-89. Aretz S, Genuardi M, Hes FJ.
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012.
Eur J Hum Genet. 2013 Jan;21(1). pii: ejhg2012163. doi: 10.1038/ejhg.2012.163. Epub 2012 Aug 8. [PMID: 22872101]

B-90. Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A.
An American founder mutation in MLH1.
Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. [PMID: 21671475]

B-91. Schneider R, Schneider C, Kloor M, Furst A, Moslein G.
Lynch syndrome: clinical, pathological, and genetic insights.
Langenbecks Arch Surg. 2012 Apr;397(4):513-25. doi: 10.1007/s00423-012-0918-8. Epub 2012 Feb 24. [PMID: 22362054]

B-92. Schneider R, Furst A, Moslein G.
[Lynch syndrome--epidemiology, clinical features, molecular genetics, screening, therapy].
Z Gastroenterol. 2012 Feb;50(2):217-25. doi: 10.1055/s-0031-1281933. Epub 2012 Feb 1. [PMID: 22298102]

B-93. Rodel C, Liersch T, Becker H, Fietkau R, Hohenberger W, Hothorn T, Graeven U, Arnold D, Lang-Welzenbach M, Raab HR, Sulberg H, Wittekind C, Potapov S, Staib L, Hess C, Weigang-Kohler K, Grabenbauer GG, Hoffmanns H, Lindemann F, Schlenska-Lange A, Folprecht G, Sauer R.
Preoperative chemoradiotherapy and postoperative chemotherapy with fluorouracil and oxaliplatin versus fluorouracil alone in locally advanced rectal cancer: initial results of the German CAO/ARO/AIO-04 randomised phase 3 trial.
Lancet Oncol. 2012 Jul;13(7):679-87. doi: 10.1016/S1470-2045(12)70187-0. Epub 2012 May 23. [PMID: 22627104]

B-94. Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N.
Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.
Hum Mutat. 2012 Dec;33(12):1617-25. doi: 10.1002/humu.22168. Epub 2012 Aug 13. [PMID: 22833534]

B-95. Pox CP, Altenhofen L, Brenner H, Theilmeier A, Von Stillfried D, Schmiegel W.
Efficacy of a nationwide screening colonoscopy program for colorectal cancer.
Gastroenterology. 2012 Jun;142(7):1460-7.e2. doi: 10.1053/j.gastro.2012.03.022. Epub 2012 Mar 21. [PMID: 22446606]

B-96. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Moller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF.
Is colorectal surveillance indicated in patients with PTEN mutations?
Colorectal Dis. 2012 Sep;14(9):e562-6. doi: 10.1111/j.1463-1318.2012.03121.x. [PMID: 22672595]

B-97. Kloor M, Huth C, Voigt AY, Benner A, Schirmacher P, von Knebel Doeberitz M, Blaker H.
Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study.
Lancet Oncol. 2012 Jun;13(6):598-606. doi: 10.1016/S1470-2045(12)70109-2. Epub 2012 May 1. [PMID: 22552011]

B-98. Huth C, Kloor M, Voigt AY, Bozukova G, Evers C, Gaspar H, Tariverdian M, Schirmacher P, von Knebel Doeberitz M, Blaker H.
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.
Mod Pathol. 2012 Jun;25(6):911-6. doi: 10.1038/modpathol.2012.30. Epub 2012 Mar 2. [PMID: 22388758]

B-99. Heindl M, Handel N, Ngeow J, Kionke J, Wittekind C, Kamprad M, Rensing-Ehl A, Ehl S, Reifenberger J, Loddenkemper C, Maul J, Hoffmeister A, Aretz S, Kiess W, Eng C, Uhlig HH.
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
Gastroenterology. 2012 May;142(5):1093-1096.e6. doi: 10.1053/j.gastro.2012.01.011. Epub 2012 Jan 20. [PMID: 22266152]

B-100. Gardes P, Forveille M, Alyanakian MA, Aucouturier P, Ilencikova D, Leroux D, Rahner N, Mazerolles F, Fischer A, Kracker S, Durandy A.
Human MSH6 deficiency is associated with impaired antibody maturation.
J Immunol. 2012 Feb 15;188(4):2023-9. doi: 10.4049/jimmunol.1102984. Epub 2012 Jan 16. [PMID: 22250089]

B-101. Baraniskin A, Birkenkamp-Demtroder K, Maghnouj A, Zollner H, Munding J, Klein-Scory S, Reinacher-Schick A, Schwarte-Waldhoff I, Schmiegel W, Hahn SA.
MiR-30a-5p suppresses tumor growth in colon carcinoma by targeting DTL.
Carcinogenesis. 2012 Apr;33(4):732-9. doi: 10.1093/carcin/bgs020. Epub 2012 Jan 27. [PMID: 22287560]

B-102. Weiss JV, Klein-Scory S, Kubler S, Reinacher-Schick A, Stricker I, Schmiegel W, Schwarte-Waldhoff I.
Soluble E-cadherin as a serum biomarker candidate: elevated levels in patients with late-stage colorectal carcinoma and FAP.
Int J Cancer. 2011 Mar 15;128(6):1384-92. doi: 10.1002/ijc.25438. [PMID: 20473926]

B-103. Qiu J, Hutter P, Rahner N, Patton S, Olschwang S.
The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome.
Hum Mutat. 2011 Jun;32(6):696-7. doi: 10.1002/humu.21493. Epub 2011 Apr 5. [PMID: 21387467]

B-104. Parc Y, Mabrut JY, Shields C.
Surgical management of the duodenal manifestations of familial adenomatous polyposis.
Br J Surg. 2011 Apr;98(4):480-4. doi: 10.1002/bjs.7374. Epub 2011 Jan 6. [PMID: 21656714]

B-105. Morak M, Massdorf T, Sykora H, Kerscher M, Holinski-Feder E.
First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.
Eur J Cancer. 2011 May;47(7):1046-55. doi: 10.1016/j.ejca.2010.11.016. Epub 2010 Dec 30. [PMID: 21195604]

B-106. Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Hochter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E.
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. [PMID: 21712435]

B-107. Kloor M, Voigt AY, Schackert HK, Schirmacher P, von Knebel Doeberitz M, Blaker H.
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome.
J Clin Oncol. 2011 Jan 10;29(2):223-7. doi: 10.1200/JCO.2010.32.0820. Epub 2010 Nov 29. [PMID: 21115857]

B-108. Hasenbring MI, Kreddig N, Deges G, Epplen JT, Kunstmann E, Stemmler S, Schulmann K, Willert J, Schmiegel W.
Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.
Genet Test Mol Biomarkers. 2011 Apr;15(4):219-25. doi: 10.1089/gtmb.2010.0165. Epub 2010 Dec 31. [PMID: 21194311]

B-109. Baraniskin A, Kuhnhenn J, Schlegel U, Chan A, Deckert M, Gold R, Maghnouj A, Zollner H, Reinacher-Schick A, Schmiegel W, Hahn SA, Schroers R.
Identification of microRNAs in the cerebrospinal fluid as marker for primary diffuse large B-cell lymphoma of the central nervous system.
Blood. 2011 Mar 17;117(11):3140-6. doi: 10.1182/blood-2010-09-308684. Epub 2011 Jan 3. [PMID: 21200023]

B-110. Aretz S, Vasen HF, Olschwang S.
Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).
Eur J Hum Genet. 2011 Jul;19(7). pii: ejhg20117. doi: 10.1038/ejhg.2011.7. Epub 2011 Feb 2. [PMID: 21368914]

B-111. Salloch H, Reinacher-Schick A, Schulmann K, Pox C, Willert J, Tannapfel A, Heringlake S, Goecke TO, Aretz S, Stemmler S, Schmiegel W.
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.
Int J Colorectal Dis. 2010 Jan;25(1):97-107. doi: 10.1007/s00384-009-0793-0. Epub 2009 Sep 2. [PMID: 19727776]

B-112. Ripperger T, Beger C, Rahner N, Sykora KW, Bockmeyer CL, Lehmann U, Kreipe HH, Schlegelberger B.
Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel biallelic MSH6 mutation.
Haematologica. 2010 May;95(5):841-4. doi: 10.3324/haematol.2009.015503. Epub 2009 Dec 16. [PMID: 20015892]

B-113. Rahner N, Steinke V, Schlegelberger B, Olschwang S, Eisinger F, Hutter P.
Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2).
Eur J Hum Genet. 2010 Sep;18(9). pii: ejhg2009232. doi: 10.1038/ejhg.2009.232. Epub 2010 Jan 27. [PMID: 20104243]

B-114. Out AA, Tops CM, Nielsen M, Weiss MM, van Minderhout IJ, Fokkema IF, Buisine MP, Claes K, Colas C, Fodde R, Fostira F, Franken PF, Gaustadnes M, Heinimann K, Hodgson SV, Hogervorst FB, Holinski-Feder E, Lagerstedt-Robinson K, Olschwang S, van den Ouweland AM, Redeker EJ, Scott RJ, Vankeirsbilck B, Gronlund RV, Wijnen JT, Wikman FP, Aretz S, Sampson JR, Devilee P, den Dunnen JT, Hes FJ.
Leiden Open Variation Database of the MUTYH gene.
Hum Mutat. 2010 Nov;31(11):1205-15. doi: 10.1002/humu.21343. [PMID: 20725929]

B-115. Nielsen M, van Steenbergen LN, Jones N, Vogt S, Vasen HF, Morreau H, Aretz S, Sampson JR, Dekkers OM, Janssen-Heijnen ML, Hes FJ.
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients.
J Natl Cancer Inst. 2010 Nov 17;102(22):1724-30. doi: 10.1093/jnci/djq370. Epub 2010 Nov 2. [PMID: 21044966]

B-116. Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E.
MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations.
Clin Genet. 2010 Oct;78(4):353-63. doi: 10.1111/j.1399-0004.2010.01478.x. [PMID: 20618354]

B-117. Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Beroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Moslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG.
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Hum Mutat. 2010 Dec;31(12):1374-81. doi: 10.1002/humu.21379. [PMID: 20960468]

B-118. Knudsen AL, Bulow S, Tomlinson I, Moslein G, Heinimann K, Christensen IJ.
Attenuated familial adenomatous polyposis: results from an international collaborative study.
Colorectal Dis. 2010 Oct;12(10 Online):e243-9. doi: 10.1111/j.1463-1318.2010.02218.x. [PMID: 20105204]

B-119. Kloor M, Michel S, von Knebel Doeberitz M.
Immune evasion of microsatellite unstable colorectal cancers.
Int J Cancer. 2010 Sep 1;127(5):1001-10. doi: 10.1002/ijc.25283. [PMID: 20198617]

B-120. Holinski-Feder E.
[The role of genetic predisposition in early detection of cancer].
MMW Fortschr Med. 2010 Jan 28;152(4):35-6. doi: 10.1007/BF03365972. [PMID: 20201216]

B-121. Heringlake S, Hofdmann M, Fiebeler A, Manns MP, Schmiegel W, Tannapfel A.
Identification and expression analysis of the aldo-ketoreductase1-B10 gene in primary malignant liver tumours.
J Hepatol. 2010 Feb;52(2):220-7. doi: 10.1016/j.jhep.2009.11.005. Epub 2009 Nov 25. [PMID: 20036025]

B-122. Ganster C, Wernstedt A, Kehrer-Sawatzki H, Messiaen L, Schmidt K, Rahner N, Heinimann K, Fonatsch C, Zschocke J, Wimmer K.
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.
Hum Mutat. 2010 May;31(5):552-60. doi: 10.1002/humu.21223. [PMID: 20186689]

B-123. Betz B, Theiss S, Aktas M, Konermann C, Goecke TO, Moslein G, Schaal H, Royer-Pokora B.
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
J Cancer Res Clin Oncol. 2010 Jan;136(1):123-34. doi: 10.1007/s00432-009-0643-z. [PMID: 19669161]

B-124. Aretz S, Hes FJ.
Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis.
Eur J Hum Genet. 2010 Sep;18(9). pii: ejhg201077. doi: 10.1038/ejhg.2010.77. Epub 2010 May 26. [PMID: 20512164]

B-125. Aretz S.
The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.
Dtsch Arztebl Int. 2010 Mar;107(10):163-73. doi: 10.3238/arztebl.2010.0163. Epub 2010 Mar 12. [PMID: 20358032]

B-126. Nielsen M, Joerink-van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HF, Sampson JR, Aretz S, Hes FJ.
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.
Gastroenterology. 2009 Feb;136(2):471-6. doi: 10.1053/j.gastro.2008.10.056. Epub 2008 Oct 30. [PMID: 19032956]

B-127. Mayer V, Schoen U, Holinski-Feder E, Koehler U, Thalhammer S.
Single cell analysis of mutations in the APC gene.
Fetal Diagn Ther. 2009;26(3):148-56. doi: 10.1159/000248721. Epub 2009 Oct 13. [PMID: 19828935]

B-128. Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kotting J, Kaminsky E, Propping P, Friedl W, Aretz S.
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
J Mol Diagn. 2009 Mar;11(2):131-9. doi: 10.2353/jmoldx.2009.080129. Epub 2009 Feb 5. [PMID: 19196998]

B-129. Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blocker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Diaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Moslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Topel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS.
Planning the human variome project: the Spain report.
Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972. [PMID: 19306394]

B-130. Jones N, Vogt S, Nielsen M, Christian D, Wark PA, Eccles D, Edwards E, Evans DG, Maher ER, Vasen HF, Hes FJ, Aretz S, Sampson JR.
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
Gastroenterology. 2009 Aug;137(2):489-94, 494.e1; quiz 725-6. doi: 10.1053/j.gastro.2009.04.047. Epub 2009 Apr 23. [PMID: 19394335]

B-131. Huneburg R, Lammert F, Rabe C, Rahner N, Kahl P, Buttner R, Propping P, Sauerbruch T, Lamberti C.
Chromocolonoscopy detects more adenomas than white light colonoscopy or narrow band imaging colonoscopy in hereditary nonpolyposis colorectal cancer screening.
Endoscopy. 2009 Apr;41(4):316-22. doi: 10.1055/s-0028-1119628. Epub 2009 Apr 1. [PMID: 19340735]

B-132. Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T, Jr.
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.
J Cancer Res Clin Oncol. 2009 Oct;135(10):1463-70. doi: 10.1007/s00432-009-0594-4. Epub 2009 May 15. [PMID: 19444466]

B-133. Rahner N, Hoefler G, Hogenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C.
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.
Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. [PMID: 18409202]

B-134. Rahner N, Friedrichs N, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C.
Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.
J Pathol. 2008 Jan;214(1):10-6. doi: 10.1002/path.2263. [PMID: 17973250]

B-135. Muller CI, Schulmann K, Reinacher-Schick A, Andre N, Arnold D, Tannapfel A, Arkenau H, Hahn SA, Schmoll SH, Porschen R, Schmiegel W, Graeven U.
Predictive and prognostic value of microsatellite instability in patients with advanced colorectal cancer treated with a fluoropyrimidine and oxaliplatin containing first-line chemotherapy. A report of the AIO Colorectal Study Group.
Int J Colorectal Dis. 2008 Nov;23(11):1033-9. doi: 10.1007/s00384-008-0504-2. Epub 2008 Jul 2. [PMID: 18594845]

B-136. Muller A, Zielinski D, Friedrichs N, Oberschmid B, Merkelbach-Bruse S, Schackert HK, Linnebacher M, von Knebel Doeberitz M, Buttner R, Ruschoff J.
Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.
Virchows Arch. 2008 Jul;453(1):9-16. doi: 10.1007/s00428-008-0637-2. Epub 2008 Jun 26. [PMID: 18581137]

B-137. Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, Keller G, Kerker B, Leitner G, Holinski-Feder E.
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27. [PMID: 18301449]

B-138. Morak M, Laner A, Scholz M, Madorf T, Holinski-Feder E.
Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.
Eur J Gastroenterol Hepatol. 2008 Nov;20(11):1101-5. doi: 10.1097/MEG.0b013e328305e185. [PMID: 19047842]

B-139. Liljegren A, Barker G, Elliott F, Bertario L, Bisgaard ML, Eccles D, Evans G, Macrae F, Maher E, Lindblom A, Rotstein S, Nilsson B, Mecklin JP, Moslein G, Jass J, Fodde R, Mathers J, Burn J, Bishop DT.
Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.
J Clin Oncol. 2008 Jul 10;26(20):3434-9. doi: 10.1200/JCO.2007.13.2795. [PMID: 18612159]

B-140. Holinski-Feder E, Morak M.
[Hereditary nonpolyposis colorectal carcinoma: state of the art].
Dtsch Med Wochenschr. 2008 Aug;133(33):1690-5. doi: 10.1055/s-0028-1082788. [PMID: 18686212]

B-141. Grunhage F, Jungck M, Lamberti C, Schulte-Witte H, Plassmann D, Becker U, Rahner N, Aretz S, Friedrichs N, Buettner R, Sauerbruch T, Lammert F.
Contribution of common monoallelic MUTYH gene variants in German patients with familial colorectal cancer.
Cancer Biomark. 2008;4(2):55-61. doi: 10.3233/cbm-2008-4201. [PMID: 18503156]

B-142. Grunhage F, Jungck M, Lamberti C, Berg C, Becker U, Schulte-Witte H, Plassmann D, Rahner N, Aretz S, Friedrichs N,
Buettner R, Sauerbruch T, Lammert F. Association of familial colorectal cancer with variants in the E-cadherin (CDH1) and cyclin D1 (CCND1) genes.
Int J Colorectal Dis. 2008 Feb;23(2):147-54. doi: 10.1007/s00384-007-0388-6. Epub 2007 Oct 25. [PMID: 17960397]

B-143. Gottschling S, Reinhard H, Pagenstecher C, Kruger S, Raedle J, Plotz G, Henn W, Buettner R, Meyer S, Graf N.
Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects.
Eur J Pediatr. 2008 Feb;167(2):225-9. doi: 10.1007/s00431-007-0474-3. Epub 2007 Mar 27. [PMID: 17387511]

B-144. Gaspar C, Cardoso J, Franken P, Molenaar L, Morreau H, Moslein G, Sampson J, Boer JM, de Menezes RX, Fodde R.
Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis.
Am J Pathol. 2008 May;172(5):1363-80. doi: 10.2353/ajpath.2008.070851. Epub 2008 Apr 10. [PMID: 18403596]

B-145. Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Moslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M.
GENETICS. The Human Variome Project.
Science. 2008 Nov 7;322(5903):861-2. doi: 10.1126/science.1167363. [PMID: 18988827]

B-146. ettstetter M, Dechant S, Ruemmele P, Vogel C, Kurz K, Morak M, Keller G, Holinski-Feder E, Hofstaedter F, Dietmaier W.
MethyQESD, a robust and fast method for quantitative methylation analyses in HNPCC diagnostics using formalin-fixed and paraffin-embedded tissue samples.
Lab Invest. 2008 Dec;88(12):1367-75. doi: 10.1038/labinvest.2008.100. Epub 2008 Oct 20. [PMID: 18936738]

B-147. Arkenau HT, Arnold D, Cassidy J, Diaz-Rubio E, Douillard JY, Hochster H, Martoni A, Grothey A, Hinke A, Schmiegel W, Schmoll HJ, Porschen R.
Efficacy of oxaliplatin plus capecitabine or infusional fluorouracil/leucovorin in patients with metastatic colorectal cancer: a pooled analysis of randomized trials.
J Clin Oncol. 2008 Dec 20;26(36):5910-7. doi: 10.1200/JCO.2008.16.7759. Epub 2008 Nov 17. [PMID: 19018087]

B-148. Alhopuro P, Phichith D, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson JP, Yang Z, Chen LQ, Orntoft T, Mecklin JP, Jarvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IP, Launonen V, Ristimaki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA.
Unregulated smooth-muscle myosin in human intestinal neoplasia.
Proc Natl Acad Sci U S A. 2008 Apr 8;105(14):5513-8. doi: 10.1073/pnas.0801213105. Epub 2008 Apr 7. [PMID: 18391202]

B-149. Schulmann K, Pox C, Tannapfel A, Schmiegel W.
The patient with multiple intestinal polyps.
Best Pract Res Clin Gastroenterol. 2007;21(3):409-26. doi: 10.1016/j.bpg.2006.11.003. [PMID: 17544108]

B-150. Rahner N, Friedrichs N, Wehner M, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C.
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.
Acta Oncol. 2007;46(6):763-9. doi: 10.1080/02841860701230217. [PMID: 17653898]

B-151. Porschen R, Arkenau HT, Kubicka S, Greil R, Seufferlein T, Freier W, Kretzschmar A, Graeven U, Grothey A, Hinke A, Schmiegel W, Schmoll HJ.
Phase III study of capecitabine plus oxaliplatin compared with fluorouracil and leucovorin plus oxaliplatin in metastatic colorectal cancer: a final report of the AIO Colorectal Study Group.
J Clin Oncol. 2007 Sep 20;25(27):4217-23. doi: 10.1200/JCO.2006.09.2684. Epub 2007 Jun 4. [PMID: 17548840]

B-152. Model F, Osborn N, Ahlquist D, Gruetzmann R, Molnar B, Sipos F, Galamb O, Pilarsky C, Saeger HD, Tulassay Z, Hale K, Mooney S, Lograsso J, Adorjan P, Lesche R, Dessauer A, Kleiber J, Porstmann B, Sledziewski A, Lofton-Day C.
Identification and validation of colorectal neoplasia-specific methylation markers for accurate classification of disease.
Mol Cancer Res. 2007 Feb;5(2):153-63. doi: 10.1158/1541-7786.MCR-06-0034. [PMID: 17314273]

B-153. Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rutten A, Kruse R.
MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?
Br J Dermatol. 2007 Jan;156(1):158-62. doi: 10.1111/j.1365-2133.2006.07607.x. [PMID: 17199584]

B-154. Liu X, Shan X, Friedl W, Uhlhaas S, Propping P, Li J, Wang Y.
May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
Acta Oncol. 2007;46(6):757-62. doi: 10.1080/02841860600996439. [PMID: 17653897]

B-155. Koehler U, Grabowski M, Bacher U, Holinski-Feder E.
A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients.
Cancer Genet Cytogenet. 2007 May;175(1):81-4. doi: 10.1016/j.cancergencyto.2007.01.008. [PMID: 17498565]

B-156. Eckert A, Kloor M, Giersch A, Ahmadi R, Herold-Mende C, Hampl JA, Heppner FL, Zoubaa S, Holinski-Feder E, Pietsch T, Wiestler OD, von Knebel Doeberitz M, Roth W, Gebert J.
Microsatellite instability in pediatric and adult high-grade gliomas.
Brain Pathol. 2007 Apr;17(2):146-50. doi: 10.1111/j.1750-3639.2007.00049.x. [PMID: 17388945]

B-157. Duffy MJ, van Dalen A, Haglund C, Hansson L, Holinski-Feder E, Klapdor R, Lamerz R, Peltomaki P, Sturgeon C, Topolcan O.
Tumour markers in colorectal cancer: European Group on Tumour Markers (EGTM) guidelines for clinical use.
Eur J Cancer. 2007 Jun;43(9):1348-60. doi: 10.1016/j.ejca.2007.03.021. Epub 2007 May 18. [PMID: 17512720]

B-158. Davalos V, Dopeso H, Velho S, Ferreira AM, Cirnes L, Diaz-Chico N, Bilbao C, Ramirez R, Rodriguez G, Falcon O, Leon L, Niessen RC, Keller G, Dallenbach-Hellweg G, Espin E, Armengol M, Plaja A, Perucho M, Imai K, Yamamoto H, Gebert JF, Diaz-Chico JC, Hofstra RM, Woerner SM, Seruca R, Schwartz S, Jr., Arango D.
High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability.
Oncogene. 2007 Jan 11;26(2):308-11. doi: 10.1038/sj.onc.1209780. Epub 2006 Jul 3. [PMID: 16819508]

B-159. Bittner R, Burghardt J, Gross E, Grundmann RT, Hermanek P, Isbert C, Junginger T, Kockerling F, Merkel S, Moslein G, Raab HR, Roder J, Ruf G, Schwenk W, Strassburg J, Tannapfel A, de Vries A, Zuhlke H.
[Report on the workshop "workflow rectal cancer II" in Burghausen].
Zentralbl Chir. 2007 Apr;132(2):95-8. doi: 10.1055/s-2007-960624. [PMID: 17516313]

B-160. Bettstetter M, Dechant S, Ruemmele P, Grabowski M, Keller G, Holinski-Feder E, Hartmann A, Hofstaedter F, Dietmaier W.
Distinction of hereditary nonpolyposis colorectal cancer and sporadic microsatellite-unstable colorectal cancer through quantification of MLH1 methylation by real-time PCR.
Clin Cancer Res. 2007 Jun 1;13(11):3221-8. doi: 10.1158/1078-0432.CCR-06-3064. [PMID: 17545526]

B-161. Alessandro R, Seidita G, Flugy AM, Damiani F, Russo A, Corrado C, Colomba P, Gullotti L, Buettner R, Bruno L, De Leo G.
Role of S128R polymorphism of E-selectin in colon metastasis formation.
Int J Cancer. 2007 Aug 1;121(3):528-35. doi: 10.1002/ijc.22693. [PMID: 17372905]

B-162. Abal M, Obrador-Hevia A, Janssen KP, Casadome L, Menendez M, Carpentier S, Barillot E, Wagner M, Ansorge W, Moeslein G, Fsihi H, Bezrookove V, Reventos J, Louvard D, Capella G, Robine S.
APC inactivation associates with abnormal mitosis completion and concomitant BUB1B/MAD2L1 up-regulation.
Gastroenterology. 2007 Jun;132(7):2448-58. doi: 10.1053/j.gastro.2007.03.027. Epub 2007 Mar 19. [PMID: 17570218]

B-163. Volikos E, Robinson J, Aittomaki K, Mecklin JP, Jarvinen H, Westerman AM, de Rooji FW, Vogel T, Moeslein G, Launonen V, Tomlinson IP, Silver AR, Aaltonen LA.
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
J Med Genet. 2006 May;43(5):e18. doi: 10.1136/jmg.2005.039875. [PMID: 16648371]

B-164. Pistorius S, Kruger S, Hohl R, Plaschke J, Distler W, Saeger HD, Schackert HK.
Occult endometrial cancer and decision making for prophylactic hysterectomy in hereditary nonpolyposis colorectal cancer patients.
Gynecol Oncol. 2006 Aug;102(2):189-94. doi: 10.1016/j.ygyno.2005.12.032. Epub 2006 Feb 14. [PMID: 16476474]

B-165. Park JG, Kim DW, Hong CW, Nam BH, Shin YK, Hong SH, Kim IJ, Lim SB, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Moeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J.
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Clin Cancer Res. 2006 Jun 1;12(11 Pt 1):3389-93. doi: 10.1158/1078-0432.CCR-05-2452. [PMID: 16740762]

B-166. Pagenstecher C, Wehner M, Friedl W, Rahner N, Aretz S, Friedrichs N, Sengteller M, Henn W, Buettner R, Propping P, Mangold E.
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Hum Genet. 2006 Mar;119(1-2):9-22. doi: 10.1007/s00439-005-0107-8. Epub 2005 Dec 8. [PMID: 16341550]

B-167. Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomaki P, Mangold E, de la Chapelle A, Greenblatt M, Nystrom M.
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22. [PMID: 17101317]

B-168. Ollila S, Fitzpatrick R, Sarantaus L, Kariola R, Ambus I, Velsher L, Hsieh E, Andersen MK, Raevaara TE, Gerdes AM, Mangold E, Peltomaki P, Lynch HT, Nystrom M.
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.
Int J Oncol. 2006 Jan;28(1):149-53. [PMID: 16327991]

B-169. Muller A, Schackert HK, Lange B, Ruschoff J, Fuzesi L, Willert J, Burfeind P, Shah P, Becker H, Epplen JT, Stemmler S.
A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years.
Am J Med Genet A. 2006 Feb 1;140(3):195-9. doi: 10.1002/ajmg.a.31070. [PMID: 16372347]

B-170. Muller A, Beckmann C, Westphal G, Bocker Edmonston T, Friedrichs N, Dietmaier W, Brasch FE, Kloor M, Poremba C, Keller G, Aust DE, Fass J, Buttner R, Becker H, Ruschoff J.
Prevalence of the mismatch-repair-deficient phenotype in colonic adenomas arising in HNPCC patients: results of a 5-year follow-up study.
Int J Colorectal Dis. 2006 Oct;21(7):632-41. doi: 10.1007/s00384-005-0073-6. Epub 2006 Mar 2. [PMID: 16511680]

B-171. Lamberti C, Mangold E, Pagenstecher C, Jungck M, Schwering D, Bollmann M, Vogel J, Kindermann D, Nikorowitsch R, Friedrichs N, Schneider B, Houshdaran F, Schmidt-Wolf IG, Friedl W, Propping P, Sauerbruch T, Buttner R, Mathiak M.
Frequency of hereditary non-polyposis colorectal cancer among unselected patients with colorectal cancer in Germany.
Digestion. 2006;74(1):58-67. doi: 10.1159/000096868. Epub 2006 Mar 3. [PMID: 17095871]

B-172. Jones B, Oh C, Mangold E, Egan CA.
Muir-Torre syndrome: Diagnostic and screening guidelines.
Australas J Dermatol. 2006 Nov;47(4):266-9. doi: 10.1111/j.1440-0960.2006.00292.x. [PMID: 17034469]

B-173. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS.
STK11 status and intussusception risk in Peutz-Jeghers syndrome.
J Med Genet. 2006 Aug;43(8):e41. doi: 10.1136/jmg.2005.040535. [PMID: 16882735]

B-174. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, Keller JJ, Westerman AM, Scott RJ, Lim W, Trimbath JD, Giardiello FM, Gruber SB, Offerhaus GJ, de Rooij FW, Wilson JH, Hansmann A, Moslein G, Royer-Pokora B, Vogel T, Phillips RK, Spigelman AD, Houlston RS.
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.
Clin Cancer Res. 2006 May 15;12(10):3209-15. doi: 10.1158/1078-0432.CCR-06-0083. [PMID: 16707622]

B-175. Dietmaier W, Bettstetter M, Wild PJ, Woenckhaus M, Rummele P, Hartmann A, Dechant S, Blaszyk H, Pauer A, Klinkhammer-Schalke M, Hofstadter F.
Nuclear Maspin expression is associated with response to adjuvant 5-fluorouracil based chemotherapy in patients with stage III colon cancer.
Int J Cancer. 2006 May 1;118(9):2247-54. doi: 10.1002/ijc.21620. [PMID: 16331619]

B-176. Cardoso J, Molenaar L, de Menezes RX, van Leerdam M, Rosenberg C, Moslein G, Sampson J, Morreau H, Boer JM, Fodde R.
Chromosomal instability in MYH- and APC-mutant adenomatous polyps.
Cancer Res. 2006 Mar 1;66(5):2514-9. doi: 10.1158/0008-5472.CAN-05-2407. [PMID: 16510566]

B-177. Baehring J, Sutter C, Kadmon M, Doeberitz MV, Gebert J.
A 'nonsense' mutation leads to aberrant splicing of hMLH1 in a German hereditary non-polyposis colorectal cancer family.
Fam Cancer. 2006;5(2):195-9. doi: 10.1007/s10689-006-6988-4. [PMID: 16736291]

B-178. Wild PJ, Stoehr R, Knuechel R, Hartmann A, Dietmaier W.
Laser microdissection for microsatellite analysis in colon and breast cancer.
Methods Mol Biol. 2005;293:93-101. doi: 10.1385/1-59259-853-6:093. [PMID: 16028413]

B-179. Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C.
Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.
Eur J Hum Genet. 2005 Aug;13(8):983-6. doi: 10.1038/sj.ejhg.5201421. [PMID: 15870828]

B-180. Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B.
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.
J Med Genet. 2005 May;42(5):428-35. doi: 10.1136/jmg.2004.026294. [PMID: 15863673]

B-181. Schulmann K, Hollerbach S, Kraus K, Willert J, Vogel T, Moslein G, Pox C, Reiser M, Reinacher-Schick A, Schmiegel W.
Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes.
Am J Gastroenterol. 2005 Jan;100(1):27-37. doi: 10.1111/j.1572-0241.2005.40102.x. [PMID: 15654777]

B-182. Schiemann U, Muller-Koch Y, Gross M, Glas J, Baretton G, Muders M, Mussack T, Holinski-Feder E.
Detection of occult high graded microsatellite instabilities in MMR gene mutation negative HNPCC tumors by addition of complementary marker analysis.
Eur J Med Res. 2005 Jan 28;10(1):23-8. [PMID: 15737950]

B-183. Schiemann U, Gunther S, Gross M, Henke G, Muller-Koch Y, Konig A, Muders M, Folwaczny C, Mussack T, Holinski-Feder E.
Preoperative serum levels of the carcinoembryonic antigen in hereditary non-polyposis colorectal cancer compared to levels in sporadic colorectal cancer.
Cancer Detect Prev. 2005;29(4):356-60. doi: 10.1016/j.cdp.2005.04.003. [PMID: 16122885]

B-184. Mueller-Koch Y, Vogelsang H, Kopp R, Lohse P, Keller G, Aust D, Muders M, Gross M, Daum J, Schiemann U, Grabowski M, Scholz M, Kerker B, Becker I, Henke G, Holinski-Feder E.
Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
Gut. 2005 Dec;54(12):1733-40. doi: 10.1136/gut.2004.060905. Epub 2005 Jun 14. [PMID: 15955785]

B-185. Martinez R, Schackert HK, Appelt H, Plaschke J, Baretton G, Schackert G.
Low-level microsatellite instability phenotype in sporadic glioblastoma multiforme.
J Cancer Res Clin Oncol. 2005 Feb;131(2):87-93. doi: 10.1007/s00432-004-0592-5. Epub 2004 Oct 16. [PMID: 15672285]

B-186. Mangold E, Pagenstecher C, Friedl W, Fischer HP, Merkelbach-Bruse S, Ohlendorf M, Friedrichs N, Aretz S, Buettner R, Propping P, Mathiak M.
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
J Pathol. 2005 Dec;207(4):385-95. doi: 10.1002/path.1858. [PMID: 16216036]

B-187. Lamberti C, Di Blasi K, Archut D, Fimmers R, Mathiak M, Bollmann M, Vogel J, Kindermann D, Mezger J, Schmidt-Wolf IG, Sauerbruch T.
Population-based registration of unselected colorectal cancer patients: five-year survival in the region of Bonn/Rhine-Sieg, Germany.
Z Gastroenterol. 2005 Feb;43(2):149-54. doi: 10.1055/s-2004-813631. [PMID: 15700204]

B-188. Kloor M, Becker C, Benner A, Woerner SM, Gebert J, Ferrone S, von Knebel Doeberitz M.
Immunoselective pressure and human leukocyte antigen class I antigen machinery defects in microsatellite unstable colorectal cancers.
Cancer Res. 2005 Jul 15;65(14):6418-24. doi: 10.1158/0008-5472.CAN-05-0044. [PMID: 16024646]

B-189. Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E.
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.
Genet Test. 2005 Summer;9(2):138-46. doi: 10.1089/gte.2005.9.138. [PMID: 15943554]

B-190. Giuffre G, Muller A, Brodegger T, Bocker-Edmonston T, Gebert J, Kloor M, Dietmaier W, Kullmann F, Buttner R, Tuccari G, Ruschoff J.
Microsatellite analysis of hereditary nonpolyposis colorectal cancer-associated colorectal adenomas by laser-assisted microdissection: correlation with mismatch repair protein expression provides new insights in early steps of tumorigenesis.
J Mol Diagn. 2005 May;7(2):160-70. doi: 10.1016/S1525-1578(10)60542-9. [PMID: 15858139]

B-191. Findeisen P, Kloor M, Merx S, Sutter C, Woerner SM, Dostmann N, Benner A, Dondog B, Pawlita M, Dippold W, Wagner R, Gebert J, von Knebel Doeberitz M.
T25 repeat in the 3' untranslated region of the CASP2 gene: a sensitive and specific marker for microsatellite instability in colorectal cancer.
Cancer Res. 2005 Sep 15;65(18):8072-8. doi: 10.1158/0008-5472.CAN-04-4146. [PMID: 16166278]

B-192. Drobinskaya I, Gabbert HE, Moeslein G, Mueller W.
A new method for optimizing multiplex DNA microsatellite analysis in low quality archival specimens.
Anticancer Res. 2005 Sep-Oct;25(5):3251-8. [PMID: 16101135]

B-193. Buckowitz A, Knaebel HP, Benner A, Blaker H, Gebert J, Kienle P, von Knebel Doeberitz M, Kloor M.
Microsatellite instability in colorectal cancer is associated with local lymphocyte infiltration and low frequency of distant metastases.
Br J Cancer. 2005 May 9;92(9):1746-53. doi: 10.1038/sj.bjc.6602534. [PMID: 15856045]

B-194. Bettstetter M, Woenckhaus M, Wild PJ, Rummele P, Blaszyk H, Hartmann A, Hofstadter F, Dietmaier W.
Elevated nuclear maspin expression is associated with microsatellite instability and high tumour grade in colorectal cancer.
J Pathol. 2005 Apr;205(5):606-14. doi: 10.1002/path.1732. [PMID: 15714592]

B-195. Bach K, Huppe D, Schmiegel W, Epplen JT, Kunstmann E.
[Evaluation of outpatient management in HNPCC].
Z Gastroenterol. 2005 Jul;43(7):647-51. doi: 10.1055/s-2005-858153. [PMID: 16001346]

B-196. Wild PJ, Reichle A, Andreesen R, Rockelein G, Dietmaier W, Ruschoff J, Blaszyk H, Hofstadter F, Hartmann A.
Microsatellite instability predicts poor short-term survival in patients with advanced breast cancer after high-dose chemotherapy and autologous stem-cell transplantation.
Clin Cancer Res. 2004 Jan 15;10(2):556-64. doi: 10.1158/1078-0432.ccr-0601-03. [PMID: 14760077]

B-197. Volmer MW, Radacz Y, Hahn SA, Klein-Scory S, Stuhler K, Zapatka M, Schmiegel W, Meyer HE, Schwarte-Waldhoff I.
Tumor suppressor Smad4 mediates downregulation of the anti-adhesive invasion-promoting matricellular protein SPARC: Landscaping activity of Smad4 as revealed by a "secretome" analysis.
Proteomics. 2004 May;4(5):1324-34. doi: 10.1002/pmic.200300703. [PMID: 15188399]

B-198. Sutter C, Dallenbach-Hellweg G, Schmidt D, Baehring J, Bielau S, von Knebel Doeberitz M, Gebert J.
Molecular analysis of endometrial hyperplasia in HNPCC-suspicious patients may predict progression to endometrial carcinoma.
Int J Gynecol Pathol. 2004 Jan;23(1):18-25. doi: 10.1097/01.pgp.0000101085.35393.4a. [PMID: 14668545]

B-199. Singer G, Kallinowski T, Hartmann A, Dietmaier W, Wild PJ, Schraml P, Sauter G, Mihatsch MJ, Moch H.
Different types of microsatellite instability in ovarian carcinoma.
Int J Cancer. 2004 Nov 20;112(4):643-6. doi: 10.1002/ijc.20455. [PMID: 15382045]

B-200. Schwitalle Y, Linnebacher M, Ripberger E, Gebert J, von Knebel Doeberitz M.
Immunogenic peptides generated by frameshift mutations in DNA mismatch repair-deficient cancer cells.
Cancer Immun. 2004 Nov 25;4:14. [PMID: 15563124]

B-201. Schulmann K, Schmiegel W.
Capsule endoscopy for small bowel surveillance in hereditary intestinal polyposis and non-polyposis syndromes.
Gastrointest Endosc Clin N Am. 2004 Jan;14(1):149-58. doi: 10.1016/j.giec.2003.10.014. [PMID: 15062388]

B-202. Schiemann U, Muller-Koch Y, Gross M, Daum J, Lohse P, Baretton G, Muders M, Mussack T, Kopp R, Holinski-Feder E.
Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: genetic reclassification and correlation with clinical features.
Digestion. 2004;69(3):166-76. doi: 10.1159/000078223. Epub 2004 Apr 28. [PMID: 15118395]

B-203. Reinacher-Schick A, Baldus SE, Romdhana B, Landsberg S, Zapatka M, Monig SP, Holscher AH, Dienes HP, Schmiegel W, Schwarte-Waldhoff I.
Loss of Smad4 correlates with loss of the invasion suppressor E-cadherin in advanced colorectal carcinomas.
J Pathol. 2004 Apr;202(4):412-20. doi: 10.1002/path.1516. [PMID: 15095268]

B-204. Plaschke J, Kruger S, Jeske B, Theissig F, Kreuz FR, Pistorius S, Saeger HD, Iaccarino I, Marra G, Schackert HK.
Loss of MSH3 protein expression is frequent in MLH1-deficient colorectal cancer and is associated with disease progression.
Cancer Res. 2004 Feb 1;64(3):864-70. doi: 10.1158/0008-5472.can-03-2807. [PMID: 14871813]

B-205. Oberschmid BI, Dietmaier W, Hartmann A, Dahl E, Klopocki E, Beatty BG, Hyman NH, Blaszyk H.
Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome.
Arch Pathol Lab Med. 2004 Sep;128(9):967-73. doi: 10.5858/2004-128-967-DSFRPS. [PMID: 15335268]

B-206. Muller A, Giuffre G, Edmonston TB, Mathiak M, Roggendorf B, Heinmoller E, Brodegger T, Tuccari G, Mangold E, Buettner R, Ruschoff J.
Challenges and pitfalls in HNPCC screening by microsatellite analysis and immunohistochemistry.
J Mol Diagn. 2004 Nov;6(4):308-15. doi: 10.1016/S1525-1578(10)60526-0. [PMID: 15507669]

B-207. Muller A, Edmonston TB, Dietmaier W, Buttner R, Fishel R, Ruschoff J.
MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC).
Dis Markers. 2004;20(4-5):225-36. doi: 10.1155/2004/343976. [PMID: 15528788]

B-208. Mangold E, Pagenstecher C, Leister M, Mathiak M, Rutten A, Friedl W, Propping P, Ruzicka T, Kruse R.
A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.
J Med Genet. 2004 Jul;41(7):567-72. doi: 10.1136/jmg.2003.012997. [PMID: 15235030]

B-209. Kunstmann E, Vieland J, Brasch FE, Hahn SA, Epplen JT, Schulmann K, Schmiegel W.
HNPCC: six new pathogenic mutations.
BMC Med Genet. 2004 Jun 24;5:16. doi: 10.1186/1471-2350-5-16. [PMID: 15217520]

B-210. Kunstmann E, Rusche H.
[Hereditary intestinal cancer. Linking a specialized center with general medical practice].
Dtsch Med Wochenschr. 2004 Jan 2;129(1-2):23-4. doi: 10.1055/s-2004-812655. [PMID: 14703577]

B-211. Kunstmann E, Generalow A, Epplen JT, Schulmann K.
Impact of genetic counseling and testing on colorectal cancer screening behavior.
Genet Test. 2004 Summer;8(2):79. doi: 10.1089/gte.2004.8.79. [PMID: 15345101]

B-212. Kruger S, Bier A, Plaschke J, Hohl R, Aust DE, Kreuz FR, Pistorius SR, Saeger HD, Rothhammer V, Al-Taie O, Schackert HK.
Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
Hum Mutat. 2004 Oct;24(4):351-2. doi: 10.1002/humu.9278. [PMID: 15365996]

B-213. Koehler A, Bataille F, Schmid C, Ruemmele P, Waldeck A, Blaszyk H, Hartmann A, Hofstaedter F, Dietmaier W.
Gene expression profiling of colorectal cancer and metastases divides tumours according to their clinicopathological stage.
J Pathol. 2004 Sep;204(1):65-74. doi: 10.1002/path.1606. [PMID: 15307139]

B-214. Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J.
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.
Hum Genet. 2004 Oct;115(5):432-8. doi: 10.1007/s00439-004-1176-9. Epub 2004 Aug 31. [PMID: 15340835]

B-215. Keller M, Jost R, Kadmon M, Wullenweber HP, Haunstetter CM, Willeke F, Jung C, Gebert J, Sutter C, Herfarth C, Buchler MW.
Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling.
Dis Colon Rectum. 2004 Feb;47(2):153-62. doi: 10.1007/s10350-003-0034-5. [PMID: 15043284]

B-216. Keller G, Vogelsang H, Becker I, Plaschke S, Ott K, Suriano G, Mateus AR, Seruca R, Biedermann K, Huntsman D, Doring C, Holinski-Feder E, Neutzling A, Siewert JR, Hofler H.
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients.
J Med Genet. 2004 Jun;41(6):e89. doi: 10.1136/jmg.2003.015594. [PMID: 15173255]

B-217. Jungck M, Grunhage F, Spengler U, Dernac A, Mathiak M, Caspari R, Friedl W, Sauerbruch T.
E-cadherin expression is homogeneously reduced in adenoma from patients with familial adenomatous polyposis: an immunohistochemical study of E-cadherin, beta-catenin and cyclooxygenase-2 expression.
Int J Colorectal Dis. 2004 Sep;19(5):438-45. doi: 10.1007/s00384-003-0575-z. Epub 2004 Feb 21. [PMID: 14986031]

B-218. Dellas A, Puhl A, Schraml P, Thomke SE, Ruschoff J, Mihatsch MJ, Moch H.
Molecular and clinicopathological analysis of ovarian carcinomas with and without microsatellite instability.
Anticancer Res. 2004 Jan-Feb;24(1):361-9. [PMID: 15015622]

B-219. Cederquist K, Emanuelsson M, Goransson I, Holinski-Feder E, Muller-Koch Y, Golovleva I, Gronberg H.
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
Int J Cancer. 2004 Apr 10;109(3):370-6. doi: 10.1002/ijc.11718. [PMID: 14961575]

B-220. Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Moslein G, Schulmann K, Propping P, Friedl W.
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Hum Mutat. 2004 Nov;24(5):370-80. doi: 10.1002/humu.20087. [PMID: 15459959]

B-211. Schulmann K, Hahn SA, Brasch F, Schmiegel W.
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