Functional assays for analysis of variants of uncertain significance in BRCA2.

ABSTRACT: Missense variants in the BRCA2 gene are routinely detected during clinical screening for pathogenic mutations in patients with a family history of breast and ovarian cancer. These subtle changes frequently remain of unknown clinical significance because of the lack of genetic information that may help establish a direct correlation with cancer predisposition. Therefore, alternative ways of predicting the pathogenicity of these variants are urgently needed. Since BRCA2 is a protein involved in important cellular mechanisms such as DNA repair, replication, and cell cycle control, functional assays have been developed that exploit these cellular activities to explore the impact of the variants on protein function. In this review, we summarize assays developed and currently utilized for studyi

SUBMITTER: Guidugli L 

PROVIDER: S-EPMC3995136 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature