BRCA1 16 years later: risk-associated BRCA1 mutati... [FEBS J. 2010] - PubMed result

FEBS J. 2010 Jul 1. [Epub ahead of print]

BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications.
Linger RJ, Kruk PA.

Department of Pathology and Cell Biology, University of South Florida, Tampa, FL, USA.

Abstract
Mutations in the tumor suppressor breast cancer susceptibility gene 1 (BRCA1), an important player in the DNA damage response, apoptosis, cell cycle regulation and transcription, confer a significantly elevated lifetime risk for breast and ovarian cancer. Although the loss of wild-type BRCA1 function is an important mechanism by which mutations confer increased cancer risk, multiple studies suggest mutant BRCA1 proteins may confer functions independent of the loss of wild-type BRCA1 through dominant negative inhibition of remaining wild-type BRCA1, or through novel interactions and pathways. These functions impact various cellular processes and have the potential to significantly influence cancer initiation and progression. In this review, we discuss the functional classifications of risk-associated BRCA1 mutations and their molecular, cellular and clinical impact for mutation carriers.

PMID: 20608970 [PubMed - as supplied by publisher]
BRCA1 16 years later: risk-associated BRCA1 mutati... [FEBS J. 2010] - PubMed result