What BRCA1 and BRCA2 are
BRCA1 and BRCA2 are tumour suppressor genes present in every person. Under normal circumstances, they produce proteins that help repair damaged DNA and prevent cells from growing uncontrollably. A BRCA mutation is a change in the sequence of one of these genes that reduces or eliminates this repair function.
When the repair mechanism is impaired, cells in the breast and ovary (and, to a lesser extent, the pancreas and prostate in men) are more likely to accumulate genetic errors that lead to cancer over time. The mutation itself does not cause cancer — it raises the risk that cancer will develop at some point.
What "positive" means in terms of numbers
Without a BRCA mutation, the average woman has roughly a 12% lifetime risk of breast cancer. With a BRCA1 mutation, that figure rises to approximately 55 to 72%. With a BRCA2 mutation, the lifetime risk is around 45 to 69%. These are population-level estimates and your individual risk depends on your personal and family history, which variant you carry, and other genetic and lifestyle factors.
These numbers are significant but they are not certainties. A BRCA1 carrier still has roughly a one in three chance of never developing breast cancer over a lifetime. What the mutation does is shift the odds enough to justify active management rather than routine screening.
Options after a positive result
Enhanced surveillance. The most common first response is intensified monitoring. For BRCA carriers, this typically means annual MRI and mammogram alternating every six months, clinical breast examinations twice yearly, and annual transvaginal ultrasound and CA-125 for ovarian surveillance. The goal is to detect any cancer at the earliest possible stage, when treatment is most effective and breast-conserving surgery is most likely to be an option.
Risk-reducing medications (chemoprevention). Tamoxifen and raloxifene can reduce the risk of oestrogen-receptor positive breast cancer by around 40 to 50% in high-risk women. They are typically taken for five years and are most beneficial for women who have not yet reached menopause. They are not suitable for everyone and carry their own side-effect profile that should be discussed with your doctor.
Risk-reducing surgery. Bilateral risk-reducing mastectomy reduces the risk of breast cancer in BRCA carriers by over 90%. Risk-reducing salpingo-oophorectomy (removal of the tubes and ovaries) reduces ovarian cancer risk by approximately 80% and also lowers breast cancer risk by reducing oestrogen exposure in premenopausal women. These are significant procedures with irreversible consequences and are typically considered after a careful discussion of timing, fertility, reconstruction, and personal values.
Dr. Shruthi has experience with implant-based reconstruction for BRCA-positive patients who choose risk-reducing mastectomy. The approach and timing are planned individually, taking into account whether the surgery is preventive or following a cancer diagnosis.
Implications for your family
BRCA mutations are inherited in an autosomal dominant pattern. This means each first-degree relative (parent, sibling, or child) has a 50% chance of carrying the same mutation. Testing is available for relatives and is often covered or subsidised when a BRCA variant has already been identified in the family.
Deciding whether and how to share genetic information with family members is a personal decision with no single right answer. Genetic counselling can help you think through the implications and support you in having those conversations.
The emotional side
Receiving a positive BRCA result is confronting, even when expected. The period immediately after a result can bring anxiety, a sense of altered identity, and difficult decisions about disclosure to family members and partners. These responses are completely normal.
Give yourself time before making any major decisions. A positive result rarely requires immediate surgery or any action within days or weeks. Take the time to gather information, ask questions, and talk with someone you trust. If the psychological weight of the result feels unmanageable, ask for a referral to a counsellor or psycho-oncologist.
A BRCA mutation gives you something many people do not have — advance knowledge and the ability to act. The women who do best after a positive result are those who treat it as a starting point for planning rather than a verdict. A specialist can help you build a plan that fits your life and your values.
Next steps in Hyderabad
If you have recently received a positive BRCA result or have a strong family history of breast cancer and want to discuss testing, Dr. Shruthi can review your history, explain your options in full, and help you make decisions at the right pace for you. She sees BRCA-positive patients both for risk management planning and for surgical consultation when risk-reducing surgery is being considered.