Article
Genetic mutation risk calculation in Lynch syndrome inheritance: Evaluating the utility of the PREMM1,2,6 model in Lyon: The first French study.
Bulletin du cancer - 1 Mar 2017
Aissaoui Souria, Cartellier Charline, Seytier Thomas, Giraud Sophie, Calender Alain
Abstract excerpt
Lynch syndrome is due to germline mutations in mismatch repair genes: MLH1, MSH2, MSH6 and PMS2. It is characterized by an increased risk of various cancers including colorectal and endometrial cancers. Early diagnosis of these patients allows for appropriate surveillance and improves survival rates. Differentiating between patients who should undergo genetic testing and those for whom it is not necessary is...
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