BRCA1
Pronunciation: BRAK-ah-one
Also written as: BRCA1 — Breast Cancer gene 1
Tumor suppressor gene associated with increased risk of breast and ovarian cancers when mutated.
Full Definition
BRCA1 (Breast Cancer gene 1) is a tumor suppressor gene that produces proteins responsible for repairing damaged DNA and maintaining genomic stability. Inherited mutations in BRCA1 significantly increase the risk of developing breast and ovarian cancers, with lifetime breast cancer risk estimated at 55-72%. BRCA1-associated breast cancers are often triple-negative, diagnosed at younger ages, and may have different treatment responses compared to sporadic breast cancers. Genetic testing for BRCA1 mutations is recommended for individuals with strong family histories of breast and ovarian cancers.
Usage
Usage note: Always capitalize; include the number 1.
In Context
- "Genetic testing revealed a deleterious BRCA1 mutation." — Genetic counseling report
- "BRCA1 carriers have significantly elevated breast cancer risk." — Risk assessment documentation