MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer

Clinical Cancer Research

Volumn 16, Issue 22, 2010, Pages 5402-5413

  Giráldez, María Dolores ^a   Balaguer, Francesc ^a   Bujanda, Luis ^b   Cuatrecasas, Miriam ^a   Muñoz, Jenifer ^a   Alonso Espinaco, Virginia ^a   Larzabal, Mikel ^b   Petit, Anna ^a   Gonzalo, Victoria ^a   Ocaña, Teresa ^a   Moreira, Leticia ^a   Enríquez Navascués, José María ^b   Boland, C Richard ^c   Goel, Ajay ^c   Castells, Antoni ^a   Castellví Bel, Sergi ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

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

^c BAYLOR RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; DNA GLYCOSYLASE MUTY; K RAS PROTEIN; MISMATCH REPAIR PROTEIN PMS2; ND AMETHYLATIONDNA; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DNA METHYLATION; EARLY CANCER; EXCISION REPAIR; FEMALE; GERM LINE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETROSPECTIVE STUDY; SOMATIC MUTATION;

ADULT; AGE OF ONSET; COLORECTAL NEOPLASMS; DNA GLYCOSYLASES; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; RETROSPECTIVE STUDIES;

EID: 78349250964     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-10-1491     Document Type: Article

References (38)

1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ. Cancer statistics, 2009. CA Cancer J Clin 2009;59:225-49.
2. Zbuk K, Sidebotham EL, Bleyer A, La Quaglia MP. Colorectal cancer in young adults. Semin Oncol 2009;36:439-50.
3. Pinol V, Andreu M, Castells A, Paya A, Bessa X, Rodrigo J. Frequency of hereditary non-polyposis colorectal cancer and other colorectal cancer familial forms in Spain: a multicentre, prospective, nationwide study. Eur J Gastroenterol Hepatol 2004;16:39-45.
4. Siegel RL, Jemal A, Ward EM. Increase in incidence of colorectal cancer among young men and women in the United States. Cancer Epidemiol Biomarkers Prev 2009;18:1695-8.
5. O'Connell JB, Maggard MA, Liu JH, Etzioni DA, Livingston EH, Ko CY. Rates of colon and rectal cancers are increasing in young adults. Am Surg 2003;69:866-72.
6. Boardman LA, Johnson RA, Petersen GM, et al. Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer. Clin Cancer Res 2007;13:2323-8.
7. Chan TL, Curtis LC, Leung SY, et al. Early-onset colorectal cancer with stable microsatellite DNA and near-diploid chromosomes. Oncogene 2001;20:4871-6.
8. Losi L, Di Gregorio C, Pedroni M, et al. Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. Am J Gastroenterol 2005;100:2280-7.
9. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005;352:1851-60.
10. Pinol V, Castells A, Andreu M, et al. Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. Jama 2005;293:1986-94.
11. Gryfe R, Kim H, Hsieh ET, et al. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer. N Engl J Med 2000;342:69-77.
12. Jasperson KW, Vu TM, Schwab AL, et al. Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. Fam Cancer 2010;9:99-107.
13. Schofield L, Watson N, Grieu F, et al. Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer 2009;124:1097-102.
14. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-8.
15. Riegert-Johnson DL, Johnson RA, Rabe KG, et al. The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test 2007;11:361-5.
16. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 2002;30:227-32.
17. Balaguer F, Castellvi-Bel S, Castells A, et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 2007;5:379-87.
18. Farrington SM, Tenesa A, Barnetson R, et al. Germline susceptibility to colorectal cancer due to base-excision repair gene defects. Am J Hum Genet 2005;77:112-9.
19. van Puijenbroek M, Nielsen M, Tops CM, 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.
20. Boparai KS, Dekker E, Van Eeden S, et al. Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 2008;135:2014-8.
21. Kets CM, van Krieken JH, van Erp PE, et al. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome? Int J Cancer 2008;122:796-801.
22. Suraweera N, Duval A, Reperant M, et al. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123:1804-11.
23. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-900.
24. Zuo Z, Chen SS, Chandra PK, et al. Application of COLD-PCR for improved detection of KRAS mutations in clinical samples. Mod Pathol 2009;22:1023-31.
25. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-32.
26. de Jong AE, Hendriks YM, Kleibeuker JH, et al. Decrease in mortality in Lynch syndrome families because of surveillance. Gastroenterology 2006;130:665-71.
27. Farrington SM, Lin-Goerke J, Ling J, et al. Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 1998;63:749-59.
28. Durno C, Aronson M, Bapat B, Cohen Z, Gallinger S. Family history and molecular features of children, adolescents, and young adults with colorectal carcinoma. Gut 2005;54:1146-50.
29. Terdiman JP, Levin TR, Allen BA, et al. Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high-risk clinic versus population-based registry. Gastroenterology 2002;122:940-7.
30. Liu B, Farrington SM, Petersen GM, et al. Genetic instability occurs in the majority of young patients with colorectal cancer. Nat Med 1995;1:348-52.
31. Ramsoekh D, Wagner A, van Leerdam ME. A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. Gut 2008;57:1539-44.
32. Barnetson RA, Tenesa A, Farrington SM, et al. Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. N Engl J Med 2006;354:2751-63.
33. Pinto C, Veiga I, Pinheiro M, et al. MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease. Br J Cancer 2006;95:752-6.
34. Dunlop MG, Farrington SM, Carothers AD, et al. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet 1997;6:105-10.
35. Cleary SP, Cotterchio M, Jenkins MA, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009;136:1251-60.
36. Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009;137:1976-85, e1-10.
37. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002;418:934.
38. Alsop K, Mead L, Smith LD, et al. Low somatic K-ras mutation frequency in colorectal cancer diagnosed under the age of 45 years. Eur J Cancer 2006;42:1357-61.