BRCA Mutation
An inherited gene change that raises cancer risk
Quick Facts
- Type: Inherited genetic change
- Genes involved: BRCA1 and BRCA2
- Raises risk of: Breast and ovarian cancer
- Confirmed by: Genetic testing
Overview
BRCA1 and BRCA2 are genes that everyone has. Their normal job is to help repair damaged DNA and keep cells growing in a controlled way, which protects against cancer. A BRCA mutation is an inherited change in one of these genes that stops it from working properly, allowing damage to build up in cells over time.
People who carry a harmful BRCA mutation have a substantially higher than average lifetime risk of breast and ovarian cancer, and a smaller increased risk of some other cancers such as those of the prostate and pancreas. A BRCA mutation is not a cancer itself and does not guarantee that cancer will develop, but it does mean closer monitoring and prevention options should be discussed. Mutations can be passed from either parent to children.
Symptoms
Carrying a BRCA mutation does not cause any symptoms by itself. People usually learn they carry a mutation through genetic testing, not because they feel unwell. Clues that prompt testing often relate to family history rather than symptoms, such as:
- Several close relatives with breast or ovarian cancer
- Breast cancer diagnosed at a young age in the family
- A relative with cancer in both breasts, or both breast and ovarian cancer
- Male breast cancer in the family
- Known BRCA mutation in a blood relative
Because there are no warning symptoms, awareness of family history and appropriate screening are key.
Causes
A BRCA mutation is an inherited change in the BRCA1 or BRCA2 gene. It is passed down through families:
- Inheritance: A child has a 50 percent chance of inheriting the mutation if a parent carries it, and it can come from either the mother's or father's side.
- Loss of DNA repair: The altered gene cannot properly repair DNA damage, so harmful changes can accumulate and lead to cancer over a lifetime.
BRCA mutations are more common in some populations, including people of Ashkenazi Jewish descent. The mutation is present from birth in carriers, but the cancers it raises the risk of usually develop later in life, if at all.
Risk Factors
- A parent, sibling, or child known to carry a BRCA mutation
- A strong family history of breast or ovarian cancer
- Breast cancer diagnosed before age 50 in close relatives
- A personal or family history of cancer in both breasts
- Male breast cancer in the family
- Ashkenazi Jewish ancestry
Diagnosis
A BRCA mutation is identified through genetic testing, usually after counseling:
- Genetic counseling: A specialist reviews personal and family history to decide whether testing is appropriate and explains what results could mean.
- Genetic testing: A blood or saliva sample is analyzed for changes in the BRCA1 and BRCA2 genes, often as part of a wider panel.
- Interpreting results: Results may be positive, negative, or show a change of uncertain significance, and counseling helps make sense of them.
Testing is a personal decision and is best done with support from a genetics professional.
Treatment
A BRCA mutation is managed by lowering cancer risk and catching any cancer early, rather than treated like an illness. Options are individualized and discussed with the care team.
- Increased screening: Starting breast screening earlier and more often, often including MRI in addition to mammograms.
- Risk-reducing medication: Certain medicines may lower breast cancer risk in some people.
- Risk-reducing surgery: Some carriers choose preventive removal of breast tissue or of the ovaries and fallopian tubes to greatly reduce risk.
- Tailored cancer treatment: If cancer does develop, knowing about a BRCA mutation can guide treatment choices.
There is no single right approach; decisions depend on personal preferences, age, and family plans.
Prevention
- Follow an enhanced screening schedule recommended by your care team
- Discuss risk-reducing medication or surgery options if appropriate
- Maintain a healthy weight, stay active, and limit alcohol
- Be aware of changes in your breasts and report them promptly
- Encourage at-risk relatives to consider genetic counseling
- Keep regular follow-up with specialists familiar with BRCA-related risk
When to See a Doctor
Consider seeing a doctor or genetic counselor if you have a strong family history of breast or ovarian cancer, a known BRCA mutation in the family, or cancer diagnosed at a young age among close relatives. If you are a known carrier, see a doctor promptly for:
- A new breast lump, skin change, or nipple discharge
- Persistent bloating, pelvic or abdominal pain, or other ongoing symptoms
- Any change that concerns you between scheduled screenings
Early evaluation and consistent screening are central to managing BRCA-related risk.
Frequently Asked Questions
Does a BRCA mutation mean I will get cancer?
No. A BRCA mutation raises your lifetime risk of breast and ovarian cancer well above average, but it does not guarantee cancer will develop. Many carriers never develop these cancers, especially with screening and prevention.
How is a BRCA mutation found?
It is identified through genetic testing of a blood or saliva sample, usually after genetic counseling. Testing is often considered when there is a strong family history of breast or ovarian cancer or a known mutation in a relative.
Can men carry a BRCA mutation?
Yes. Men can carry and pass on BRCA mutations, and they have a higher risk of male breast cancer and prostate cancer. A mutation can be inherited from either the mother's or father's side.
What can I do if I carry a BRCA mutation?
Options include earlier and more frequent screening, risk-reducing medications, and in some cases preventive surgery. The best plan is individualized and decided with your care team based on your age, preferences, and family history.
Should my family members get tested?
Close blood relatives may benefit from genetic counseling, since each child of a carrier has a 50 percent chance of inheriting the mutation. A genetics professional can advise who should consider testing and when.
References
- National Cancer Institute (NCI). BRCA Gene Mutations: Cancer Risk and Genetic Testing.
- Centers for Disease Control and Prevention (CDC). Hereditary Breast and Ovarian Cancer.
- Mayo Clinic. BRCA gene test for breast and ovarian cancer risk.
- MedlinePlus, U.S. National Library of Medicine. BRCA1 and BRCA2 genes.