The decision to pursue testing for the BRCA genes (BRCA1 and BRCA2) provides information about one’s inherited risk for certain cancers. These genes produce tumor suppressor proteins that repair damaged DNA, maintaining the stability of a cell’s genetic material. When a person inherits a harmful mutation, the DNA repair process is compromised, significantly increasing the lifetime chance of developing specific cancers. Understanding this inherited risk allows for proactive medical management, but testing requires careful consideration of personal history, family patterns, and the emotional implications of the results.
What Are the BRCA Genes and Associated Risks
The normal function of BRCA1 and BRCA2 is repairing double-strand breaks in DNA. When a pathogenic variant is present, the gene cannot perform this function effectively, allowing genetic errors to accumulate. This inherited mutation dramatically elevates the risk for breast and ovarian cancers.
For women with a BRCA1 or BRCA2 mutation, the lifetime risk of developing breast cancer can be as high as 72%, compared to about 12% in the general population. Ovarian cancer risk is also substantially increased, with BRCA1 mutations leading to a risk up to 44% and BRCA2 mutations carrying a risk up to 17%. These genes also confer increased risk for other cancers, including male breast cancer, prostate cancer (especially with BRCA2), and pancreatic cancer. Individuals with a BRCA mutation often receive a cancer diagnosis at a younger age.
Specific Criteria for Genetic Testing Eligibility
Testing eligibility is based on specific personal and family history patterns that suggest an inherited mutation is likely. Genetic testing is recommended for individuals with a personal history of cancer meeting certain criteria, or those with specific family patterns.
Personal History Criteria
Genetic testing is indicated if you have been diagnosed with:
- Breast cancer at age 45 or younger.
- Triple-negative breast cancer at age 60 or younger.
- Two or more separate breast cancer diagnoses.
- Ovarian, fallopian tube, or primary peritoneal cancer (regardless of age).
- Male breast cancer (regardless of age).
Family History Criteria
Testing should be considered even without a personal cancer diagnosis if:
- A first- or second-degree relative has a known BRCA1 or BRCA2 mutation.
- Two or more relatives on the same side of the family have breast or ovarian cancer.
- A relative has pancreatic or metastatic prostate cancer.
Individuals of Ashkenazi Jewish heritage have a higher prevalence of specific founder BRCA mutations. This group should consider testing if they have a personal history of breast cancer at any age or a close relative with breast, ovarian, or pancreatic cancer. Meeting any of these criteria warrants a pre-test consultation with a genetics expert.
The Testing Process, Counseling, and Emotional Context
The testing process begins with mandatory genetic counseling. This session ensures a full understanding of the benefits, limitations, and risks of genetic testing, including the medical and psychological implications of the results. The counselor also builds a comprehensive family medical history to identify the most informative test.
The physical testing process is simple, usually requiring a sample of blood or saliva sent to a specialized laboratory. Results typically take a few weeks and are interpreted by the genetic counselor or physician. Results fall into three main categories: positive, negative, or a Variant of Uncertain Significance (VUS).
A positive result confirms a harmful BRCA mutation, while a negative result means the specific mutation was not found. A VUS indicates a gene change not yet classified as harmful or harmless, which can cause anxiety. Results can trigger a range of emotions, including anxiety about future health or relief from understanding a family’s cancer pattern. Results also carry non-medical implications, such as the ethical dilemma of disclosing information to at-risk family members. While federal laws protect against genetic discrimination in health insurance and employment, concerns remain regarding life insurance and long-term care policies.
Medical Management Following a Positive BRCA Result
A positive BRCA result shifts the focus to intensive risk management and prevention. Enhanced surveillance aims to detect cancers at the earliest, most treatable stages. For women, this involves starting clinical breast exams by age 25, followed by annual breast Magnetic Resonance Imaging (MRI) and mammograms, often staggered every six months.
The most impactful intervention is risk-reducing surgery, which offers the greatest reduction in cancer risk. A bilateral risk-reducing mastectomy (surgical removal of both breasts) can reduce the chance of breast cancer by over 90%. For ovarian cancer, a risk-reducing bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is strongly recommended due to the lack of effective screening.
The timing of ovarian surgery is mutation-specific and depends on family planning. BRCA1 carriers are typically advised to consider the procedure between ages 35 and 40, and BRCA2 carriers between ages 40 and 45. This procedure also reduces breast cancer risk by about 50% if performed before natural menopause. Chemoprevention, using medications such as Tamoxifen, is another non-surgical option to reduce breast cancer incidence.