Prevalence and characteristics of mutyh-associated polyposis in patients with multiple adenomatous and serrated polyps

Clinical Cancer Research

Volumn 20, Issue 5, 2014, Pages 1158-1168

  Guarinos, Carla ^a   Juarez, Miriam ^a   Egoavil, Cecilia ^a   Rodriguez Soler, Maria ^a   Perez Carbonell, Lucia ^a,q   Salas, Ramon ^a   Cubiella, Joaquin ^b   Rodriguez Moranta, Francisco ^c   De Castro, Luisa ^f   Bujanda, Luis ^g   Serradesanferm, Anna ^d   Nicolas Pérez, David ^h   Herraiz, Maite ⁱ   Fernandez Bañares, Fernando ^j   Herreros De Tejada, Alberto ^k   Aguirre, Elena ^l   Balmana, Judith ^e   Rincon, Maria Luisa ^m   Pizarro, Angeles ⁿ   Polo Ortiz, Francisco ^o   Castillejo, Adela ^p   Alenda, Cristina ^a   Paya, Artemio ^a   Soto, Jose Luis ^p   Jover, Rodrigo ^a   more..

^a HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^b Departments of Pathology Hospital General Universitario ^*  (Spain)

^c Bellvitge University Hospital   (Spain)

^d INSTITUTO DE SALUD CARLOS III   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f Gastroenterology Department   (Spain)

^g UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^h HOSPITAL UNIVERSITARIO DE CANARIAS   (Spain)

ⁱ UNIVERSITY CLINIC OF NAVARRA   (Spain)

^j HOSPITAL MÚTUA DE TERRASSA   (Spain)

^k HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^l HOSPITAL ARNAU DE VILANOVA   (Spain)

^m Hospital Bidasoa   (Spain)

ⁿ HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^o HOSPITAL DE BASURTO   (Spain)

^p Hospital General Universitario   (Spain)

^q BAYLOR RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; DNA GLYCOSYLASE MUTY;

ADULT; ALLELE; ARTICLE; BRAF GENE; COLON ADENOMA; COLON POLYP; COLON POLYPOSIS; COLORECTAL CANCER; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; MUTYH ASSOCIATED POLYPOSIS; MUTYH GENE; ONCOGENE K RAS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SOMATIC MUTATION;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; COLONIC POLYPS; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; FEMALE; GENES, RAS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREVALENCE; PROTO-ONCOGENE PROTEINS B-RAF; YOUNG ADULT;

EID: 84895779653     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-13-1490     Document Type: Article

References (39)

1. Baglioni S, Genuardi M. Simple and complex genetics of colorectal cancer susceptibility. Am J Med Genet C Semin Med Genet 2004; 129C:35-43.
2. Jass JR. Colorectal polyposes: from phenotype to diagnosis. Pathol Res Pract 2008;204:431-47.
3. Ellis CN. Colonic adenomatous polyposis syndromes: clinical management. Clin Colon Rectal Surg 2008;21:256-62.
4. Grover S, Kastrinos F, Steyerberg EW, Cook EF, Dewanwala A, Burbidge LA, et al. Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 2012;308:485-92.
5. Balaguer F, Castellvi-Bel S, Castells A, Andreu M, Munoz J, Gisbert JP, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 2007;5:379-87.
6. Goodenberger M, Lindor NM. Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol 2011; 45:488-500.
7. Gala M, Chung DC. Hereditary colon cancer syndromes. Semin Oncol 2011;38:490-9.
8. Castillejo A, Sanchez-Heras AB, Jover R, Castillejo MI, Guarinos C, Oltra S, et al. Recurrent testicular germ cell tumors in a family with MYH-associated polyposis. J Clin Oncol 2012;30:e216-7.
9. Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009;137:1976-85.
10. Marra G, Jiricny J. Multiple colorectal adenomas-is their number up? N Engl J Med 2003;348:845-7.
11. Aretz S, Genuardi M, Hes FJ. Clinical utility gene card for: MUTYHassociated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP)-update 2012. Eur J Hum Genet 2013;21.
12. Prior TW, Bridgeman SJ. Identifying mutations for MYH-associated polyposis. Curr Protoc Hum Genet 2010;Chapter 10:Unit 10.13.
13. Nielsen M, Morreau H, Vasen HF, Hes FJ. MUTYH-associated polyposis (MAP). Crit Rev Oncol Hematol 2011;79:1-16.
14. Boparai KS, Dekker E, Van Eeden S, Polak MM, Bartelsman JF, Mathus-Vliegen EM, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 2008;135:2014-8.
15. Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet 2007;71:427-33.
16. Venesio T, Molatore S, Cattaneo F, Arrigoni A, Risio M, Ranzani GN. High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis. Gastroenterology 2004;126: 1681-5.
17. Cleary SP, Cotterchio M, Jenkins MA, Kim H, Bristow R, Green R, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009;136:1251-60.
18. Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004;127:9-16.
19. Guarinos C, Sanchez-Fortun C, Rodriguez-Soler M, Perez-Carbonell L, Egoavil C, Juarez M, et al. Clinical subtypes and molecular characteristics of serrated polyposis syndrome. Clin Gastroenterol Hepatol 2013;11:705-11.
20. Snover DC, Ahnen DJ, Burt RW, Odze RD. Serrated polyps of the colon and rectum and serrated ("hyperplastic") polyposis. In:Bosman ST, Carneiro F, Hruban RH, Theise ND, editors. WHO classification of tumours of the digestive system. Berlin, Germany: Springer-Verlag; 2010. p. 160-5.
21. Abdelmaksoud-Dammak R, Miladi-Abdennadher I, Amouri A, Tahri N, Ayadi L, Khabir A, et al. High prevalence of the c.1227-1228dup (p. Glu410GlyfsX43) mutation in Tunisian families affected with MUTYHassociated-polyposis. Fam Cancer 2012;11:503-8.
22. Gomez-Fernandez N, Castellvi-Bel S, Fernandez-Rozadilla C, Balaguer F, Munoz J, Madrigal I, et al. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? BMC Med Genet 2009;10:57.
23. Benlloch S, Paya A, Alenda C, Bessa X, Andreu M, Jover R, et al. Detection ofBRAFV600E mutation in colorectal cancer: comparison of automatic sequencing and real-time chemistry methodology. J Mol Diagn 2006;8:540-3.
24. Bai H, Jones S, Guan X, Wilson TM, Sampson JR, Cheadle JP, et al. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Res 2005;33:597-604.
25. Filipe B, Baltazar C, Albuquerque C, Fragoso S, Lage P, Vitoriano I, et al. APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas. Clin Genet 2009;76:242-55.
26. Gismondi V, Meta M, Bonelli L, Radice P, Sala P, Bertario L, et al. Prevalence of the Y165C, G382Dand 1395delGGAgermline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer 2004;109:680-4.
27. Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003;348:791-9.
28. Lipton L, Tomlinson I. The multiple colorectal adenoma phenotype and MYH, a base excision repair gene. Clin Gastroenterol Hepatol 2004; 2:633-8.
29. Nielsen M, Joerink-van de Beld MC, Jones N, Vogt S, Tops CM, Vasen HF, et al. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 2009;136:471-6.
30. Barnetson RA, Devlin L, Miller J, Farrington SM, Slater S, Drake AC, et al. Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. Clin Genet 2007;72:551-5.
31. Fearnhead NS, Winney B, Bodmer WF. Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle 2005;4:521-5.
32. Giraldez MD, Balaguer F, Caldes T, Sanchez-de-Abajo A, Gomez-Fernandez N, Ruiz-Ponte C, et al. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Fam Cancer 2009; 8:525-31.
33. 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; 47:1046-55.
34. Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, et al. MUTYH and the mismatch repair system: partners in crime? Hum Genet 2006;119:206-11.
35. Thirlwell C, Howarth KM, Segditsas S, Guerra G, Thomas HJ, Phillips RK, et al. Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. Br J Cancer 2007;96:1729-34.
36. Necker J, Kovac M, Attenhofer M, Reichlin B, Heinimann K. Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test. J Med Genet 2011;48:526-9.
37. Spier I, Horpaopan S, Vogt S, Uhlhaas S, Morak M, Stienen D, et al. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. Hum Mutat 2012;33:1045-50.
38. Lipton L, Halford SE, Johnson V, Novelli MR, Jones A, Cummings C, et al. Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 2003;63:7595-9.
39. van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, et al. Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res 2008;14:139-42.