A Novel Breast Cancer–Associated <i>BRIP1</i> ( <i>FANCJ/BACH1</i> ) Germ-line Mutation Impairs Protein Stability and Function

Abstract

These results, by showing that the newly identified BRIP1 c.2992-2995delAAGA mutation is associated with instability and functional impairment of the encoded protein, provide further evidence of a breast cancer-related role for BRIP1.