A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

ABSTRACT: Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to be variants of uncertain significance (VUS) because their impact on disease risk remains unknown, largely due to lack of sufficient familial linkage and epidemiological data. Several assays have been developed to examine the effect of VUS on protein function, which can be used to assess their impact on cancer susceptibility. In this study, we report the functional characterization of 88 BRCA2 variants, including several previously uncharacterized variants, using a well-established mouse embryonic stem cell (mESC)-based assay. We have exami

SUBMITTER: Biswas K 

PROVIDER: S-EPMC7722754 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature