Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States

Cancer Epidemiology Biomarkers and Prevention

Volumn 17, Issue 8, 2008, Pages 2044-2051

  Kastrinos, Fay ^a,c   Stoffel, Elena M ^a,b,c   Balmaña, Judith ^d   Steyerberg, Ewout W ^e   Mercado, Rowena ^b   Syngal, Sapna ^a,b,c,f  

^a Division of Gastroenterology   (Spain)

^b Dana Farber Cancer Institute   (Spain)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; COLORECTAL CANCER; ENDOMETRIUM CANCER; FAMILY; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC PROCEDURES; HUMAN; MAJOR CLINICAL STUDY; MALE; MLH1 GENE; MSH2 GENE; PHENOTYPE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; SOUTHERN BLOTTING; UNITED STATES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHI-SQUARE DISTRIBUTION; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; CROSS-SECTIONAL STUDIES; DNA MISMATCH REPAIR; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC SCREENING; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PHENOTYPE; PREVALENCE; UNITED STATES;

EID: 54049097208     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-08-0301     Document Type: Article

References (20)

1. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003;348:919-32.
2. Grady WM. Genetic testing for high-risk colon cancer patients. Gastroenterology 2003;124:1574-94.
3. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetic and clinical implications. Ann Intern Med 2003;138:560-70.
4. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999;81:214-8.
5. Watson P, Lynch HT. Extracolonic cancer in hereditary nonpolyposis colorectal cancer. Cancer 1993;71:677-85.
6. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M, Jarvinen HJ. Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 1995;64:430-3.
7. Vasen HFA, Stormorken A, Menko FH, et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001;19:4074-80.
8. Lynch HT, Boland CR, Gong G, et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Hum Genet 2006;14:390-402.
9. Balmaña J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch Syndrome. JAMA 2006;296:1469-78.
10. 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.
11. Chen S, Wang W, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch Syndrome. JAMA 2006;296:1469-78.
12. Steyerberg EW, Balmaña J, Stockwell DH, Syngal S. Data reduction for prediction: a case study on robust coding of age and family history for the risk of having a genetic mutation. Stat Med 2007;26:5545-56.
13. Pandipalliam B, Garber J, Kolodner RD, Syngal S. Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology 2004;126:936-7.
14. Baudhuin LM, Ferber MJ, Winters JL, et al. Characterization of hMLH1 and hMLH2 gene dosage alterations in Lynch Syndrome patients. Gastroenterology 2005;129:846-54.
15. Vasen HF, Wijnen JT, Menko FH, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology 1996;111:1020-7.
16. Peltomaki P, Gao X, Mecklin JP. Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Fam Cancer 2001;1:9-15.
17. Parc Y, Boisson C, Thomas G, Olschwang S. Cancer Risk in 348 French MSH2 or MLH1 gene carriers. J Med Genet 2003;40:208-13.
18. Goecke T, Schulmann K, Engel C, et al. 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;24:4285-92.
19. Mangold E, Pagenstecher C, Leister M, et al. A genotype-phenotype correlation in HNPCC: strong predominance of MSH2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004;41:567-72.
20. 1,2 model in a population-based cohort of colorectal cancer patients. Gastroenterology 2008;134:39-46.