Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas

JAMA

Volumn 308, Issue 5, 2012, Pages 485-492

  Grover, Shilpa ^a,b,d,e   Kastrinos, Fay ^f   Steyerberg, Ewout W ^g   Cook, E Francis ^c   Dewanwala, Akriti ^d   Burbidge, Lynn Anne ^h   Wenstrup, Richard J ^h   Syngal, Sapna ^a,b,d  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f NewYork Presbyterian Hospital   (United States)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h Myriad Genetic Laboratories   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; ASPARTIC ACID; CYSTEINE; DNA GLYCOSYLASE MUTY; GLYCINE; TYROSINE; APC PROTEIN, HUMAN; DNA GLYCOSYLTRANSFERASE;

ADULT; APC GENE; ARTICLE; COLORECTAL ADENOMA; COLORECTAL POLYP; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; FEMALE; GENE FREQUENCY; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE CANCER; MUTATIONAL ANALYSIS; MUTYH GENE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; TUMOR GENE; ADENOMA; COLON POLYPOSIS; COLORECTAL TUMOR; DNA SEQUENCE; GENETICS; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADENOMA; ADENOMATOUS POLYPOSIS COLI; ADENOMATOUS POLYPOSIS COLI PROTEIN; ADULT; COLORECTAL NEOPLASMS; CROSS-SECTIONAL STUDIES; DNA GLYCOSYLASES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84864506477     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2012.8780     Document Type: Article

References (36)

1. Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science. 1991;253(5020):661-665. (Pubitemid 21917199)
2. 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(2):227-232.
3. Jones S, Emmerson P, Maynard J, et al. Biallelic germ-line mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet. 2002;11(23):2961-2967.
4. Cleary SP, Cotterchio M, Jenkins MA, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology. 2009;136(4):1251-1260.
5. Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl JMed. 2003;348(9):791-799. (Pubitemid 36245755)
6. Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet. 2003;362(9377):39-41. (Pubitemid 36835819)
7. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004;127(1):9-16. (Pubitemid 38962269)
8. Croitoru ME, Cleary SP, Berk T, et al. Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients. J Surg Oncol. 2007;95(6):499-506. (Pubitemid 46709394)
9. Nielsen M, Hes FJ, Nagengast FM, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007;71(5):427-433. (Pubitemid 46730652)
10. 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(7):1681-1685. (Pubitemid 38736332)
11. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121(1):198-213. (Pubitemid 32591530)
12. Vasen HF, Möslein G, Alonso A, et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut. 2008;57(5):704-713. (Pubitemid 351579987)
13. Rex DK, Johnson DA, Anderson JC, Schoenfeld PS, Burke CA, Inadomi JM; American College of Gastroenterology. American College of Gastroenterology guidelines for colorectal cancer screening 2009 [published correction appears in Am J Gastroenterol. 2009;104(6):1613]. Am J Gastroenterol. 2009;104(3):739-750.
14. Burt RW, Barthel JS, Dunn KB, et al NCCN. NCCN clinical practice guidelines in oncology: colorectal cancer screening. J Natl Compr Canc Netw. 2010;8(1):8-61.
15. Schafer JL. Multiple imputation: a primer. Stat Methods Med Res. 1999;8(1):3-15. (Pubitemid 29222784)
16. Bussey H. Familial Polyposis Coli: Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment. Baltimore, MD: Johns Hopkins University Press; 1975.
17. Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253(5020):665-669. (Pubitemid 21917200)
18. Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66(3):589-600.
19. Powell SM, Petersen GM, Krush AJ, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med. 1993;329(27):1982-1987. (Pubitemid 24015041)
20. Miyoshi Y, Ando H, Nagase H, et al. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A. 1992;89(10):4452-4456.
21. Armstrong JG, Davies DR, Guy SP, Frayling IM, Evans DG. APC mutations in familial adenomatous polyposis families in the Northwest of England. Hum Mutat. 1997;10(5):376-380. (Pubitemid 27473298)
22. Giarola M, Stagi L, Presciuttini S, et al. Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. Hum Mutat. 1999;13(2):116-123. (Pubitemid 29059150)
23. Nagase H, Miyoshi Y, Horii A, et al. Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients. Hum Mutat. 1992;1(6):467-473.
24. van der Luijt RB, Khan PM, Vasen HF, et al. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germ-line mutations identified by DGGE, PTT, and Southern analysis. Hum Mutat. 1997;9(1):7-16. (Pubitemid 27024025)
25. Jo WS, Bandipalliam P, Shannon KM, et al. Correlation of polyp number and family history of colon cancer with germline MYH mutations. Clin Gastroenterol Hepatol. 2005;3(10):1022-1028. (Pubitemid 41415751)
26. Gismondi V, Meta M, Bonelli L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer. 2004;109(5):680-684. (Pubitemid 38405614)
27. Russell AM, Zhang J, Luz J, et al. Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients. Int J Cancer. 2006;118(8):1937-1940.
28. Filipe B, Baltazar C, Albuquerque C, 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(3):242-255.
29. Giardiello FM, Brensinger JD, Petersen GM, et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med. 1997;336(12):823-827. (Pubitemid 27132979)
30. Balmaña J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296(12):1469-1478. (Pubitemid 44465511)
31. Balaguer F, Balmaña J, Castellví-Bel S, et al Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Validation and extension of the PREMM1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology. 2008;134(1):39-46.
32. 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(6):2014-2018.
33. Croitoru ME, Cleary SP, Di Nicola N, et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004;96(21):1631-1634. (Pubitemid 39534887)
34. Fleischmann C, Peto J, Cheadle J, Shah B, Sampson J, Houlston RS. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. Int J Cancer. 2004;109(4):554-558. (Pubitemid 38339646)
35. 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(1):112-119. (Pubitemid 40848041)
36. Castellsagué E, González S, Guinó E, et al. Allele-specific expression of APC in adenomatous polyposis families. Gastroenterology. 2010;139(2):439-447.