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- Title
Prediction of Germline Mutations and Cancer Risk in the Lynch Syndrome.
- Authors
Sining Chen; Wenyi Wang; Shing Lee; Khedoudja Nafa; Lee, Johanna; Romans, Kathy; Watson, Patrice; Gruber, Stephen B.; Euhus, David; Kinzler, Kenneth W.; Jass, Jeremy; Gallinger, Steven; Lindor, Noralane M.; Casey, Graham; Ellis, Nathan; Giardiello, Francis M.; Offit, Kenneth; Parmigiani, Giovanni
- Abstract
The article presents a medical study researching ways to help identify families and individuals at risk for Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer. The study sought to create the MMRpro model and evaluate its ability to assist in genetic counseling and cancer prevention by estimating the probability of individuals carrying a mutation in mismatch repair genes MLH1, MSH2, or MSH6 as well as their likelihood of developing endometrial or colorectal cancer. According to the article, MMRpro is accurate and applicable for patients whose tumor samples are unavailable and whose germline testing results did not find any mutations. INSET: Family History as Inputs to the MMRpro Model and Resulting Output.
- Publication
JAMA: Journal of the American Medical Association, 2006, Vol 296, Issue 12, p1479
- ISSN
0098-7484
- Publication type
Academic Journal
- DOI
10.1001/jama.296.12.1479