BRCA1/BRCA2
Pronunciation: BRAH-kah one and BRAH-kah two
Also written as: BRCA1/BRCA2 — Breast Cancer susceptibility gene 1/2
Tumor suppressor genes associated with hereditary breast and ovarian cancer syndrome; mutations significantly increase cancer risk.
Full Definition
BRCA1 and BRCA2 are tumor suppressor genes that normally help repair damaged DNA and maintain genomic stability. Inherited mutations in these genes dramatically increase the lifetime risk of developing breast and ovarian cancers, and to a lesser extent, other cancers including prostate and pancreatic cancer. BRCA testing is used for risk assessment, treatment selection (particularly PARP inhibitor therapy), and family counseling. The presence of BRCA mutations also influences surgical decision-making and surveillance protocols.
Usage
Usage note: Always include the forward slash when referring to both genes together.
In Context
- "The patient tested positive for a pathogenic BRCA1 mutation." — Genetic counseling report
- "BRCA2-associated tumors showed excellent response to platinum-based chemotherapy." — Treatment summary