BRCA mutation
Pronunciation: BRACK-ah
Also written as: BRCA — Breast Cancer gene
Hereditary genetic alteration in BRCA1 or BRCA2 genes that significantly increases risk of breast and ovarian cancers.
Full Definition
BRCA mutations are pathogenic variants in the BRCA1 or BRCA2 genes, which normally function as tumor suppressors involved in DNA repair. Carriers of deleterious BRCA mutations have a substantially increased lifetime risk of developing breast cancer (up to 85%) and ovarian cancer (up to 60% for BRCA1, up to 27% for BRCA2). These mutations follow an autosomal dominant inheritance pattern and are particularly prevalent in Ashkenazi Jewish populations. Knowledge of BRCA status influences screening protocols, surgical decisions, and treatment options.
Usage
Usage note: BRCA is always capitalized; distinguish between BRCA1 and BRCA2 when specificity is required.
In Context
- "The patient tested positive for a deleterious BRCA1 mutation and elected for prophylactic bilateral salpingo-oophorectomy." — Genetic counseling note
- "Family history significant for BRCA mutation prompted genetic testing and enhanced surveillance." — Clinical assessment