Article
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
Cancer prevention research (Philadelphia, Pa.) - 1 Oct 2017
Borras Ester, Chang Kyle, Pande Mala, Cuddy Amanda, Bosch Jennifer L, Bannon Sarah A, Mork Maureen E, Rodriguez-Bigas Miguel A, Taggart Melissa W, Lynch Patrick M, You Y Nancy, Vilar Eduardo
Abstract excerpt
Lynch syndrome (LS) is a genetic condition secondary to germline alterations in the DNA mismatch repair (MMR) genes with 30% of changes being variants of uncertain significance (VUS). Our aim was to perform an in silico reclassification of VUS from a large single institutional cohort that will help prioritizing functional validation. A total of 54 VUS were detected with 33 (61%) novel variants. We integrated...
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