Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

ABSTRACT: Mutations in BRCA1 and BRCA2 are responsible for a large proportion of breast-ovarian cancer families. Protein-truncating mutations have been effectively used in the clinical management of familial breast cancer due to their deleterious impact on protein function. However, the majority of missense variants identified throughout the genes continue to pose an obstacle for predictive informative testing due to low frequency and lack of information on how they affect BRCA1/2 function. Phosphorylation of BRCA1 and BRCA2 play an important role in their function as regulators of DNA repair, transcription and cell cycle in response to DNA damage but whether missense variants of uncertain significance (VUS) are able to disrupt this important process is not known. Here we employed a novel approach u

SUBMITTER: Tram E 

PROVIDER: S-EPMC3660339 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature