From the Guidelines
BRCA testing should be performed through a multi-step process that begins with genetic counseling to discuss personal and family history of cancer, followed by a blood or saliva sample for DNA analysis to identify mutations in the BRCA1 and BRCA2 genes, as recommended by the USPSTF 1. The process of BRCA testing involves several key steps, including:
- Genetic counseling to discuss personal and family history of cancer
- Collection of a blood or saliva sample for DNA analysis
- Testing for specific known mutations or comprehensive testing for multiple cancer-related genes
- Interpretation of test results by a genetic counselor or healthcare provider
- Discussion of results and implications for cancer risk, including recommendations for enhanced screening, preventive medications, or risk-reducing surgeries. It is essential that individuals are fully informed about the implications of testing and have expressed a desire for it before undergoing BRCA testing, as the results can have significant implications for their health and well-being 1. The type of mutation analysis required depends on family history, with individuals from families with known mutations or from ethnic groups in which certain mutations are more common (such as Ashkenazi Jewish women) being tested for these specific mutations 1. Individuals without linkages to families or groups with known mutations receive more comprehensive testing, which may involve sequencing the entire genes or panel testing that examines multiple cancer-related genes simultaneously 1. The benefits of BRCA testing include the ability to identify individuals at increased risk for breast, ovarian, and other cancers, allowing for early intervention and treatment to reduce the risk of these cancers 1. However, the harms of BRCA testing, such as anxiety and uncertainty, must also be considered, and individuals should be fully informed about the potential risks and benefits before undergoing testing 1.
From the Research
BRCA Gene Testing Process
The process for performing BRCA (Breast Cancer Gene) testing involves several steps:
- Identification of individuals who may benefit from genetic counseling and risk-reducing strategies 2
- Assessment of personal and family history of breast, ovarian, tubal, or peritoneal cancer or ancestry associated with BRCA1/2 gene mutations 3
- Use of brief familial risk assessment tools to identify individuals who may benefit from genetic counseling and testing 3
- Genetic counseling to discuss the risks and benefits of testing, as well as the implications of test results 4
- Genetic testing for BRCA1 and BRCA2 mutations, which can be performed on a blood sample or other tissue sample 2
Indications for BRCA Testing
BRCA testing is recommended for individuals with:
- A personal history of breast, ovarian, tubal, or peritoneal cancer 3
- A family history of breast, ovarian, tubal, or peritoneal cancer 3
- Ancestry associated with BRCA1/2 gene mutations, such as Ashkenazi Jewish ancestry 3
- A previous diagnosis of breast, ovarian, tubal, or peritoneal cancer who have completed treatment and are considered cancer-free 3
Risk-Reducing Strategies
Individuals with BRCA1 or BRCA2 mutations may consider the following risk-reducing strategies:
- Intensive cancer screening, including annual mammography and breast magnetic resonance imaging screening 5
- Chemoprevention, such as the use of selective estrogen receptor modulators (SERMs) and aromatase inhibitors 5
- Risk-reducing bilateral salpingo-oophorectomy, which can reduce the risk of breast and ovarian cancer 5
- Prophylactic mastectomy, which can reduce the risk of breast cancer by 90% or more 5
Considerations for Prophylactic Mastectomy
Prophylactic mastectomy is a surgical procedure that involves the removal of one or both breasts to reduce the risk of breast cancer. Considerations for this procedure include: