What are BRCA1 and BRCA2 mutations?
BRCA1 and BRCA2 are genes that normally help repair damaged DNA and prevent cells from growing out of control. When these genes carry a mutation (a damaging change), they no longer function correctly. This means cells in the breast and ovaries are at a much higher risk of developing cancer.
Mutations in BRCA1 and BRCA2 are inherited, they are passed from parent to child. If a parent carries a BRCA mutation, each child has a 50% chance of inheriting it. BRCA mutations account for around 5 to 10% of all breast cancers.
Lifetime risk in BRCA-positive individuals
- BRCA1 mutation: estimated 55 to 72% lifetime risk of breast cancer
- BRCA2 mutation: estimated 45 to 69% lifetime risk of breast cancer
- BRCA1 mutation: estimated 44 to 46% lifetime risk of ovarian cancer
- BRCA2 mutation: estimated 17 to 25% lifetime risk of ovarian cancer
- The average woman's lifetime risk of breast cancer is around 12 to 13%
These are population-level estimates and your personal risk may differ based on other factors. A genetic counsellor can help you understand what a positive result means for you specifically.
Who should consider testing?
- You have a first-degree relative (parent, sibling, child) with a BRCA mutation
- You have multiple relatives on the same side of the family with breast or ovarian cancer
- A family member was diagnosed with breast cancer at a young age (under 50)
- A male family member has been diagnosed with breast cancer
- You have a personal history of triple-negative breast cancer diagnosed under 60
- You are of Ashkenazi Jewish descent (BRCA mutations are more prevalent in this population)
Surgical options for BRCA-positive patients
Knowing you carry a BRCA mutation allows you to take action before cancer develops, or to make informed decisions about treatment if a diagnosis has already been made.
- Prophylactic bilateral mastectomy: Surgical removal of both breasts to reduce the lifetime risk of breast cancer. This reduces risk by approximately 90 to 95% in BRCA carriers. It is a personal decision that requires thorough counselling.
- Risk-reducing salpingo-oophorectomy: Surgical removal of the fallopian tubes and ovaries to reduce ovarian cancer risk. Usually discussed with a gynaecological oncologist.
- Enhanced surveillance: For those who choose not to have surgery, annual MRI from age 25 to 30, mammograms, and regular clinical examination can detect cancers early.
- Chemoprevention: Medications such as tamoxifen or raloxifene can reduce breast cancer risk in some high-risk individuals.
Implant-based reconstruction for BRCA-positive patients
Dr. Shruthi specialises in immediate implant-based reconstruction for BRCA-positive patients who choose prophylactic mastectomy. When reconstruction is planned and performed at the same time as the mastectomy, patients wake up with a breast mound already formed. Nipple-sparing mastectomy is often used in this setting.
Both sub-pectoral and pre-pectoral implant placements are available, and the approach is chosen based on body type, patient preference, and surgical considerations. Dr. Shruthi plans both breasts simultaneously, achieving balanced results.
Genetic counselling
Before testing and before making any surgical decision, genetic counselling is strongly recommended. A genetic counsellor explains what a positive (or negative) result means, how it affects family members, and what the options are. Dr. Shruthi coordinates genetic counselling as part of pre-surgical planning for BRCA-positive patients.
A positive BRCA test result does not mean you will definitely develop cancer. It means your risk is elevated. Many BRCA-positive women make the choice to have risk-reducing surgery after careful counselling, and many do not. The decision is entirely yours. Dr. Shruthi's role is to make sure you have accurate information and all surgical options clearly explained before you decide.