From the Guidelines
BRCA testing is recommended for women with a personal history of ovarian, fallopian tube, or primary peritoneal cancer at any age, as well as those with a personal history of breast cancer diagnosed before age 45, triple-negative breast cancer before age 60, or breast cancer at any age with a family history of ovarian or breast cancer. This recommendation is based on the strong association between BRCA mutations and these gynecological cancers, as highlighted in the US Preventive Services Task Force (USPSTF) recommendation statement 1.
Key factors that increase the likelihood of BRCA mutations include:
- A personal history of ovarian, fallopian tube, or primary peritoneal cancer at any age
- A personal history of breast cancer diagnosed before age 45, triple-negative breast cancer before age 60, or breast cancer at any age with a family history of ovarian or breast cancer
- Ashkenazi Jewish ancestry
- A family history of BRCA mutations, ovarian cancer, male breast cancer, or multiple relatives with breast cancer, especially at younger ages
The USPSTF recommends that primary care providers use familial risk stratification tools to identify women who may be at increased risk for BRCA mutations and offer them genetic counseling and testing 1. Genetic counseling is essential to help individuals understand the implications of testing and make informed decisions about their care.
It is also important to note that BRCA1 and BRCA2 mutations significantly increase the lifetime risk of ovarian cancer, with risks of up to 44% for BRCA1 and 17% for BRCA2, compared to the general population risk of about 1.3% 1. Identifying these mutations allows for enhanced screening, preventive measures like risk-reducing salpingo-oophorectomy, and may influence treatment decisions if cancer develops.
Overall, BRCA testing is a crucial step in identifying women who may be at increased risk for BRCA-related cancers and providing them with appropriate care and prevention strategies.
From the Research
Gynecological Cancers and BRCA Testing
- The primary gynecological cancers associated with BRCA1 and BRCA2 mutations are ovarian, fallopian tube, and primary peritoneal cancers 2, 3, 4, 5.
- Women with BRCA1 or BRCA2 mutations are at a significantly increased risk of developing these cancers, and risk-reducing salpingo-oophorectomy (RRSO) is often recommended to reduce this risk 2, 3, 4.
- Studies have shown that RRSO can reduce the risk of ovarian, fallopian tube, and primary peritoneal cancers by approximately 80% in women with BRCA1 or BRCA2 mutations 2, 4.
- The decision to undergo BRCA testing and RRSO should be based on individual risk assessment and consultation with a healthcare provider 5, 6.
Specific Cancers and BRCA Mutations
- Ovarian cancer: BRCA1 and BRCA2 mutations increase the risk of ovarian cancer, with a cumulative incidence of 4.3% at 20 years after oophorectomy in BRCA1 and BRCA2 mutation carriers 2.
- Fallopian tube cancer: BRCA1 and BRCA2 mutations also increase the risk of fallopian tube cancer, although the incidence is lower than that of ovarian cancer 2, 3.
- Primary peritoneal cancer: BRCA1 and BRCA2 mutations increase the risk of primary peritoneal cancer, with a cumulative incidence of 4.3% at 20 years after oophorectomy in BRCA1 and BRCA2 mutation carriers 2.
BRCA Testing and Risk Reduction
- BRCA testing can identify women with BRCA1 or BRCA2 mutations who are at increased risk of gynecological cancers 5, 6.
- RRSO can reduce the risk of ovarian, fallopian tube, and primary peritoneal cancers in women with BRCA1 or BRCA2 mutations, although it is not a guarantee against developing these cancers 2, 4.
- Women with BRCA1 or BRCA2 mutations should discuss their individual risk and options for risk reduction with a healthcare provider 5, 6.