BRCA2 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer.

**Synonyms:** - BRCA2 - BRCA2 Mutation - BRCC2 Gene Mutation - BROVCA2 Gene Mutation - Breast Cancer 2 Gene Mutation - Breast Cancer 2, Early Onset Gene Mutation - Breast Cancer Type 2 Susceptibility Gene Mutation - FANCD1 Gene Mutation - Mutation of the BRCA2 Gene - XRCC11 Gene Mutation