From the Guidelines
BRCA genetic testing is indicated in the primary care setting for patients with specific family history patterns that suggest hereditary breast and ovarian cancer syndrome, and primary care providers should refer patients meeting these criteria to genetic counseling for comprehensive risk assessment before proceeding with testing. Testing should be considered for individuals with a personal or family history of breast cancer diagnosed before age 50, triple-negative breast cancer before age 60, ovarian cancer at any age, male breast cancer, multiple primary breast cancers, Ashkenazi Jewish ancestry with breast cancer at any age, or a family history of BRCA-related cancers across multiple generations. Testing is also warranted when there are multiple cases of breast, ovarian, pancreatic, or aggressive prostate cancer in the same family line. The threshold for testing lowers when there are multiple affected relatives, younger ages at diagnosis, or rare cancers like male breast cancer. BRCA mutations significantly increase lifetime risk of developing breast cancer (up to 70%), ovarian cancer (up to 44%), and other cancers including pancreatic, prostate, and melanoma. Early identification of mutation carriers allows for enhanced surveillance, risk-reducing medications, or prophylactic surgeries that can dramatically reduce cancer mortality, as supported by the US Preventive Services Task Force recommendation statement 1.
Some key points to consider when evaluating the need for BRCA genetic testing include:
- Family history of breast, ovarian, or other BRCA-related cancers
- Age at diagnosis of breast or ovarian cancer
- Presence of multiple primary cancers in the same individual or family members
- Ashkenazi Jewish ancestry
- Male breast cancer
- Pancreatic or aggressive prostate cancer in the family
Primary care providers should use brief familial risk stratification tools, such as the Ontario Family History Assessment Tool or the Referral Screening Tool, to determine the need for in-depth genetic counseling, as recommended by the USPSTF 1.
It is essential to note that the USPSTF recommends genetic counseling and testing for women with a family history that suggests an inherited cancer susceptibility, and that testing should only be done when an individual has access to a health professional who is trained to provide genetic counseling and interpret test results, and when test results will aid in decision making 1.
From the Research
Indications for BRCA Genetic Testing
The indications for BRCA genetic testing in the primary care setting are as follows:
- Women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations should be assessed with an appropriate brief familial risk assessment tool 2
- Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing 2
- Family history of female breast cancer before age 50 years is a common indication for BRCA-related genetic counseling referral 3
- Women whose family or personal history is associated with an increased risk for harmful mutations in the BRCA1/2 genes, or who have an ancestry associated with BRCA1/2 gene mutations, may benefit from risk assessment, genetic counseling, genetic testing, and interventions 2
Risk Assessment and Genetic Counseling
Primary care clinicians should assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations using an appropriate brief familial risk assessment tool 2
- Genetic counseling is recommended for women with a positive result on the risk assessment tool 2
- The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations 2
Importance of BRCA Genetic Testing
BRCA1/2 mutation testing is important to identify women at greatest risk of developing ovarian cancer, as well as its impact on diagnosis, prognosis, and targeted therapy 4
- Various international guidelines recommend BRCA1/2 mutation genetic testing in all ovarian cancer patients irrespective of age and family history 4
- Germline genetic testing for hereditary breast and ovarian cancer can help identify pathogenic variants in several other DNA-repair genes that increase the risks of breast and ovarian cancer 5