BRCA1 Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA1 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA1 gene. Approximately 75% of these alterations result in a truncated form of the breast cancer type 1 susceptibility protein. Mutations in the BRCA1 gene predispose individuals to breast and ovarian cancers.

**Synonyms:** - BRCA1 - BRCA1 Mutation - BROVCA1 Gene Mutation - Breast Cancer 1 Gene Mutation - Breast Cancer 1, Early Onset Gene Mutation - Breast Cancer Type 1 Susceptibility Gene Mutation - Mutation of the BRCA1 Gene