BRCA1 & BRCA2 Mutations: What You Need to Know
Upasana Mukherjee
Genetics Researcher
BRCA mutations significantly increase cancer risk, but knowledge is power. Understand what these mutations mean and what you can do about them.
Understanding BRCA Mutations
BRCA1 and BRCA2 are genes that produce proteins that help suppress tumor growth. When either of these genes is mutated, cell growth becomes uncontrolled, leading to cancer.
Who Should Get Tested?
BRCA testing is recommended for people who have:
- A personal or family history of breast cancer, especially at a young age
- Multiple family members with breast or ovarian cancer
- A family member with a known BRCA mutation
- Ashkenazi Jewish ancestry (higher prevalence)
What Do Positive Results Mean?
A positive BRCA1 mutation carries approximately:
- 72% lifetime risk of breast cancer
- 44% lifetime risk of ovarian cancer
For BRCA2:
- 69% lifetime risk of breast cancer
- 17% lifetime risk of ovarian cancer
Management Options
People with BRCA mutations have several options:
- Enhanced surveillance: More frequent screenings
- Risk-reducing surgery: Preventive mastectomy or oophorectomy
- Chemoprevention: Medications to reduce cancer risk
- Clinical trials: Access to new prevention strategies
The Importance of Counseling
A positive BRCA result affects not just you, but your family members too. Genetic counseling is essential to navigate the emotional and practical implications of your results.
Written by
Upasana Mukherjee
Genetics Researcher
Contributing to Allelic's mission of making genetics education accessible, accurate, and actionable for everyone in India.
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