Functional evaluation of variants of unknown significance in the BRCA2 gene identified in genetic testing.

ABSTRACT: Heterozygous germline BRCA2 mutations predispose to breast, ovarian, pancreatic and other types of cancer. The presence of a pathogenic mutation in patients or their family members warrants close surveillance or prophylactic surgery. Besides clearly pathogenic mutations, variants leading only to a single amino acid substitution are often identified. The influence of such variants on cancer risk is often unknown, making their presence a major clinical problem. When genetic methods are insufficient to classify these variants, functional assays with various cellular models are performed. We developed and applied a new syngeneic model of human cancer cells to test all variants of unknown significance in exon 18 identified by genetic testing of high-risk cancer patients in the Czech Republic, v

SUBMITTER: Heczkova M 

PROVIDER: S-EPMC6606029 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature