Article
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Cancer biology & therapy - 3 Jul 2017
Arora Sanjeevani, Huwe Peter J, Sikder Rahmat, Shah Manali, Browne Amanda J, Lesh Randy, Nicolas Emmanuelle, Deshpande Sanat, Hall Michael J, Dunbrack Roland L, Golemis Erica A
Abstract excerpt
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6, and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncertain significance (VUS) in these genes, as it is often difficult to determine variant pathogenicity, particularly for missense variants. Generic programs such as...
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