BRCA1 and BRCA2 are genes that help repair DNA damage and prevent cancer. These are considered as body’s “spellcheckers” – they fix errors in DNA to keep cells healthy. Mutations (harmful changes) in these genes reduce their ability to repair DNA, increasing cancer risk. These mutations are inherited from either parent.
Cancer risks associated with BRCA mutations
- Women with BRCA1/2 mutations have significantly higher risks:
- Breast cancer: Up to 70% lifetime risk (vs. 13% in the general population).
- Ovarian cancer: Up to 44% for BRCA1, 17% for BRCA2 (vs. 1-2% generally).
- Other cancers: Pancreatic, melanoma
Should you consider Genetic testing?
Testing may be advised if you have:
- A personal or family history of breast/ovarian cancer.
- Ashkenazi Jewish ancestry (higher mutation prevalence).
- A known BRCA mutation in your family.
How testing works:
- Simple blood or saliva test.
- Genetic counselling is recommended before and after to discuss implications.
Managing Cancer Risk
- Enhanced Screening:
- Annual mammograms + breast MRI starting at age 25-30.
- Pelvic exams + transvaginal ultrasound for ovarian cancer.
- Risk-Reducing Medications: Tamoxifen or aromatase inhibitors (for breast cancer).
- Preventive Surgery: Mastectomy (breast removal) or salpingo-oophorectomy (ovary/tube removal).
- Lifestyle Choices: Maintain a healthy weight, limit alcohol, avoid smoking.
Implications for family
- Each child of a BRCA carrier has a 50% chance of inheriting the mutation.
- Encourage relatives to consider testing.
- Reproductive Options: Preimplantation genetic diagnosis (PGD) with IVF may help prevent passing the mutation.
eGynaecologist Advice
- You should seek gynaecological consultation if any member of your family has suffered associated cancers, particularly below the age of 50 years.
- You must consider risk reducing surgery and seek gynaecological consultation when you have been proven to have BRCA gene mutations.
- You must start yearly surveillance from the age of 35 years with your gynaecologist if you have BRCA gene mutation and opt for risk reducing surgery when your family is complete.
Frequently Asked Questions
Does a BRCA mutation mean I’ll definitely get cancer?
No – it means increased risk, not certainty. Management options can lower risk.
What if my test is negative?
A “true negative” (no family mutation) reduces risk to average. If your family has an unknown mutation, risks may still be elevated.
Should I tell my family members if I have a mutation?
Yes, it is highly recommended. Your genetic test result can have important health implications for your blood relatives (parents, siblings, and children).
Will insurance cover testing?
Many plans do, especially with a family history.
