BRCA testing
Pronunciation: BRACK-ah testing
Also written as: BRCA — BReast CAncer gene
Genetic testing for mutations in BRCA1 and BRCA2 genes that significantly increase breast and ovarian cancer risk.
Full Definition
BRCA testing involves genetic analysis to detect mutations in the BRCA1 and BRCA2 genes, which are tumor suppressor genes that normally help repair damaged DNA. When mutated, these genes significantly increase a woman's lifetime risk of developing breast cancer (up to 72% for BRCA1, 69% for BRCA2) and ovarian cancer (up to 44% for BRCA1, 17% for BRCA2). Testing is typically recommended for individuals with strong family histories of breast or ovarian cancer, Ashkenazi Jewish ancestry, or personal histories of early-onset breast cancer. Results guide important medical decisions including enhanced screening protocols, prophylactic surgeries (mastectomy or salpingo-oophorectomy), and treatment options. Genetic counseling is essential both before and after testing to help patients understand implications and make informed decisions.
Usage
Usage note: Use 'BRCA' in all capitals as it is an acronym; always mention genetic counseling when discussing BRCA testing.
In Context
- "Given the patient's strong family history of ovarian cancer, BRCA testing was recommended and genetic counseling arranged." — consultation note
- "The patient's BRCA testing revealed a pathogenic variant in BRCA1, and she is considering prophylactic bilateral salpingo-oophorectomy." — genetic counseling follow-up