Prediction of MLH1 and MSH2 mutations in lynch syndrome

JAMA

Volumn 296, Issue 12, 2006, Pages 1469-1478

  Balmaña, Judith ^a,e   Stockwell, David H ^b   Steyerberg, Ewout W ^a,c   Stoffel, Elena M ^a,b   Deffenbaugh, Amie M ^d   Reid, Julia E ^d   Ward, Brian ^d   Scholl, Thomas ^d   Hendrickson, Brant ^d   Tazelaar, John ^d   Burbidge, Lynn Anne ^d   Syngal, Sapna ^a,b  

^a DANA FARBER CANCER INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Myriad Genetic Laboratories   (United States)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BLOOD SAMPLING; CHILD; COLORECTAL CANCER; CONFIDENCE INTERVAL; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; POPULATION RESEARCH; PRIORITY JOURNAL; PROSPECTIVE STUDY; RECEIVER OPERATING CHARACTERISTIC; RISK ASSESSMENT; SOUTHERN BLOTTING; STATISTICAL MODEL; VALIDATION PROCESS; ADOLESCENT; COHORT ANALYSIS; COLORECTAL TUMOR; GENETIC SCREENING; GENETICS; INTERNET; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; PROBABILITY;

CARRIER PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN MSH2;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARRIER PROTEINS; COHORT STUDIES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; GENETIC SCREENING; HUMANS; INTERNET; LIKELIHOOD FUNCTIONS; LOGISTIC MODELS; MALE; MIDDLE AGED; MODELS, STATISTICAL; MULTIVARIATE ANALYSIS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROBABILITY;

EID: 33749040947     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.296.12.1469     Document Type: Article

References (32)

1. Lynch HT, de la Chapelle A. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet. 1999;36:801-818.
2. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.
3. Leach FS, Nicolaides NC, Papadopoulos N, et al. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell. 1993;75:1215-1225.
4. Miyaki M, Konishi M, Tanaka K, et al. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17:271-272.
5. Chung DC, Rustgi AK. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. Ann Intern Med. 2003;138:560-570.
6. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424-425.
7. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute Workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda Guidelines. J Natl Cancer Inst. 1997;89:1758-1762.
8. Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M. Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects. Am J Med Genet. 1996;62:353-364.
9. 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;96:261-268.
10. Couch FJ, DeShano ML, Blackwood MA, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997;336:1409-1415.
11. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998;62:145-158.
12. Harrell FE Jr, Lee KL, Pollock BG. Regression models in clinical studies: determining relationships between predictors and response. J Natl Cancer Inst. 1988;80:1198-1202.
13. Harrell FE Jr. Regression Modeling Strategies: With Applications to Linear Models, Logistic Regression, and Survival Analysis. New York, NY: Springer; 2001.
14. Steyerberg EW, Harrell FE Jr, Borsboom GJ, Eijkemans MJ, Vergouwe Y, Habbema JD. Internal validation of predictive models: efficiency of some procedures for logistic regression analysis. J Clin Epidemiol. 2001;54:774-781.
15. Wijnen JT, Vasen HF, Khan PM, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med. 1998;339:511-518.
16. Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998;338:1481-1487.
17. Nystrom-Lahti M, Wu Y, Moisio AL, et al. DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet. 1996;5:763-769.
18. Wijnen J, Khan PM, Vasen H, et al. Hereditary non-polyposis colorectal cancer families not complying with the Amsterdam Criteria show extremely low frequency of mismatch-repair-gene mutations. Am J Hum Genet. 1997;61:329-335.
19. Wang Q, Lasset C, Desseigne F, et al. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet. 1999;105:79-85.
20. Wagner A, Barrows A, Wijnen JT, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet. 2003;72:1088-1100.
21. 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;293:1986-1994.
22. Hampel H, Frankel WL, Martin E, et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med. 2005;352:1851-1860.
23. Terdiman JP. It is time to get serious about diagnosing Lynch syndrome (hereditary nonpolyposis colorectal cancer with defective DNA mismatch repair) in the general population. Gastroenterology. 2005;129:741-744.
24. Southey MC, Jenkins MA, Mead L, et al. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol. 2005;23:6524-6532.
25. Stormorken AT, Bowitz-Lothe IM, Noren T, et al. Immunohistochemistry identifies carriers of mismatch repair gene defects causing hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2005;23:4705-4712.
26. Lipton LR, Johnson V, Cummings C, et al. Refining the Amsterdam Criteria and Bethesda Guidelines: testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol. 2004;22:4934-4943.
27. Marroni F, Pastrello C, Benatti P, et al. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability. Clin Genet. 2006;69:254-262.
28. Barnetson RA, Tenesa A, Farrington SM, et al. Indentification and survival of carriers of mutations in DNA mismatch repair genes in colon cancer. N Engl J Med. 2006;354:2751-2763.
29. Murff HJ, Spigel DR, Syngal S. Does this patient have a family history of cancer? an evidence-based analysis of the accuracy of family cancer history. JAMA. 2004;292:1480-1489.
30. Aitken J, Bain C, Ward M, Siskind V, MacLennan R. How accurate is self-reported family history of colorectal cancer? Am J Epidemiol. 1995;141:863-871.
31. Kerber RA, Slattery ML. Comparison of selfreported and database-linked family history of cancer data in a case-control study. Am J Epidemiol. 1997;146:244-248.
32. Mitchell RJ, Brewster D, Campbell H, et al. Accuracy of reporting family history of colorectal cancer. Gut. 2004;53:291-295.