Article
Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.
PLoS genetics - 1 Sept 2023
Sahu Sounak, Sullivan Teresa L, Mitrophanov Alexander Y, Galloux Mélissa, Nousome Darryl, Southon Eileen, Caylor Dylan, Mishra Arun Prakash, Evans Christine N, Clapp Michelle E, Burkett Sandra, Malys Tyler, Chari Raj, Biswas Kajal, Sharan Shyam K
Abstract excerpt
The unknown pathogenicity of a significant number of variants found in cancer-related genes is attributed to limited epidemiological data, resulting in their classification as variant of uncertain significance (VUS). To date, Breast Cancer gene-2 (BRCA2) has the highest number of VUSs, which has necessitated the development of several robust functional assays to determine their functional significance. Here we...
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