BRCA gene testing — Patient information · Ruqelo Health
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BRCA gene testing
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Educational summary — not medical advice. Discuss with your healthcare provider.
Informed by recognized medical guidance
Overview
BRCA gene testing is a genetic blood test that looks for changes (mutations) in the BRCA1 and BRCA2 genes. These genes normally help protect you from certain cancers, especially breast and ovarian cancer. If you have a harmful mutation, your risk of developing these cancers is higher than average. The test does not tell you if you have cancer – it tells you if you carry a gene change that increases your risk.
Key facts
BRCA1 and BRCA2 are genes that produce proteins that repair damaged DNA and help prevent cancer.
A harmful mutation in either gene significantly raises the risk of breast, ovarian, prostate, and pancreatic cancers.
About 1 in 400 people in the general population has a BRCA mutation, but it is more common in certain groups.
Questions about this article
The test is a simple blood or saliva sample; results can take several weeks.
Knowing your BRCA status can help you and your doctor make informed decisions about screening and risk reduction.
No, BRCA gene mutations are uncommon. Only about 1 in 400 people carry one. However, they are more frequent in people of Ashkenazi Jewish descent, where about 1 in 40 carry a specific mutation.
BRCA gene mutations can affect anyone, but they are more likely to be found in people with a strong family history of breast, ovarian, or related cancers. The test is most commonly offered to adults who have a personal or family history that suggests an inherited risk.
Symptoms
Call emergency services immediately if you notice:
If you have sudden, severe chest pain or difficulty breathing, call your local emergency number immediately. (These could be signs of a blood clot, which is a rare but serious side effect of some risk-reducing surgeries, not the test itself.)
If you have a lump that is growing rapidly, severe pain, or bleeding from a breast or other area, seek emergency care.
See a doctor urgently (same day) if you notice:
⚠If you discover a new breast lump or any unexplained change in your breast or body, see a doctor within a few days.
⚠If you are scheduled for BRCA testing and develop symptoms that worry you, contact your healthcare provider.
Common symptoms
BRCA gene mutations themselves do not cause any symptoms. You can have a mutation and feel completely healthy.
The increased risk is for developing cancers later in life, which may cause symptoms such as a lump in the breast, changes in breast shape, unexplained weight loss, or abdominal bloating.
Symptoms in children
BRCA testing is not typically done in children because the cancer risks appear later in life. Testing is usually offered from about age 18 onward, or when a person can make an informed decision.
Symptoms in older adults
Older adults may still consider BRCA testing if they have a personal or family history of related cancers, as it can guide treatment and screening for other family members.
Causes
Main causes
BRCA gene mutations are inherited from a parent. They are passed down in an autosomal dominant pattern, meaning only one copy of the mutated gene from either parent is enough to increase your risk.
Most people with a BRCA mutation have a family history of breast, ovarian, or other related cancers, but sometimes the mutation occurs for the first time in a person with no known family history.
Risk factors
Having a close relative (parent, sibling, child) with a known BRCA mutation.
Having a family history of breast cancer diagnosed before age 50, ovarian cancer at any age, male breast cancer, or multiple cases of breast cancer in the same family.
Belonging to certain ethnic groups, such as Ashkenazi Jewish, where specific BRCA mutations are more common.
Having a personal history of breast cancer before age 40 or at a young age, especially if the cancer is triple-negative.
When to see a doctor
See a doctor urgently if:
If you notice any new or unusual changes in your breasts, such as a lump, skin dimpling, or discharge, see a doctor promptly.
If you have a known BRCA mutation and develop symptoms of ovarian cancer (bloating, pelvic pain, difficulty eating), contact your doctor urgently.
Book a routine appointment if:
If you are concerned about your family history of cancer, make an appointment with your general practitioner or a genetic counsellor to discuss whether BRCA testing might be right for you.
If you are planning to have children and have a family history of BRCA mutations, consider discussing genetic testing and reproductive options with a specialist.
Most people with a family history of cancer do not have a BRCA mutation. Genetic testing is a personal choice, and a counsellor can help you understand the pros and cons. Even if you do carry a mutation, there are effective ways to manage your risk and stay well.
Diagnosis
BRCA gene testing is done through a blood or saliva sample. The sample is sent to a laboratory that looks for specific changes (mutations) in the BRCA1 and BRCA2 genes. This is usually arranged by a genetics specialist or a doctor who has discussed the test with you.
Tests that may be done
Initial testing often looks for the most common mutations first.
If no common mutation is found but your family history is strong, a more thorough test called full gene sequencing may be done.
If a mutation is found, other family members may be offered testing for that specific mutation (predictive testing).
What to expect at your appointment
Before testing, you will have a consultation with a genetic counsellor or doctor who will explain what the test can and cannot tell you, and what the results might mean for you and your family. The test is simple – it is like having a blood test or spitting into a tube. Results usually take 2 to 4 weeks. Your doctor will discuss the results with you in person or by phone. If a mutation is found, you will be offered counselling and possible risk management options.
Treatment
BRCA testing itself is not a treatment. If a mutation is found, the goal is to reduce your risk of developing cancer and to catch any cancer early. Treatment plans are highly personalised and may include increased screening, preventive medications, or risk-reducing surgery. Decisions should be made with a specialist team.
Self-care at home
Know your breasts or body – check for any changes regularly and report them to your doctor.
Maintain a healthy weight, limit alcohol, and avoid smoking to help reduce overall cancer risk.
Follow your recommended screening schedule (mammograms, MRI scans, etc.) strictly.
Talk to your doctor about any symptoms that worry you – do not wait for a routine appointment.
Medical treatments
Doctors may suggest options such as earlier and more frequent breast screening (for example, yearly mammograms and MRI scans from an earlier age), chemoprevention (medicines that lower risk, such as selective oestrogen receptor modulators or aromatase inhibitors – these are not named to avoid promoting specific brands), and risk-reducing surgery (removal of the breasts or ovaries) for people with very high risk. The choice depends on your age, health, and personal preferences. For people who already have cancer, targeted therapies such as PARP inhibitors may be an option – your doctor will explain the best plan for you.
When is surgery considered?
Risk-reducing mastectomy (removal of both breasts) and salpingo-oophorectomy (removal of the ovaries and fallopian tubes) are major decisions. They are usually considered for people with a BRCA mutation who have a very high lifetime risk of breast or ovarian cancer. Surgery greatly reduces risk but does not eliminate it entirely, and it has physical and emotional effects. This option is discussed in detail with a specialist team and often after genetic counselling.
Living with this condition
If you have a BRCA mutation, day-to-day life can feel normal. The most important thing is to stay on top of your health. This means keeping up with recommended cancer screenings, knowing the early signs of cancer, and making healthy lifestyle choices. Some people find it helpful to join a support group or talk with a counsellor to manage anxiety about cancer risk.
Lifestyle tips
Eat a balanced diet rich in fruits, vegetables, and whole grains.
Get regular physical activity – aim for at least 150 minutes of moderate exercise per week.
Limit alcohol to no more than one drink per day, or less.
Do not smoke or use tobacco in any form.
Maintain a healthy weight.
Diet and exercise
No specific diet is proven to prevent cancer in BRCA carriers, but a healthy diet and regular exercise can lower your overall risk of many diseases. Focus on plenty of vegetables, fruit, and fibre, and limit red meat and processed foods. Stay active – brisk walking, cycling, or swimming are all good choices. Always check with your doctor before making major changes.
Mental health and emotional wellbeing
Learning that you carry a BRCA mutation can bring up strong emotions – fear, anxiety, guilt, or worry about the future. It is very common to feel overwhelmed. It can also affect decisions about relationships, having children, and career. If these feelings interfere with daily life, talk to your doctor or a mental health professional. Many people find counselling or support groups very helpful.
Prevention
You cannot prevent inheriting a BRCA mutation, but you can take steps to prevent cancer or catch it early. These steps include intensive screening, risk-reducing medications, and, in some cases, preventive surgery. Lifestyle changes like a healthy diet and not smoking also help lower overall cancer risk.
Vaccines
There are no vaccines for BRCA mutations or related cancers. However, the HPV vaccine can prevent cervical cancer, which is not linked to BRCA, but it is still important for overall health.
Screening programmes
If you have a BRCA mutation, doctors usually recommend earlier and more frequent screening. For example, women may start getting yearly mammograms and MRI scans of the breast from age 25 or earlier. Screening for ovarian cancer (with ultrasound and a blood test called CA-125) may also be offered, though it is less effective. Men with BRCA mutations may start prostate cancer screening earlier. Follow your specialist’s advice.
Complications
If left untreated
If you have a BRCA mutation and do not take any risk-reducing steps, your chance of developing breast cancer by age 70 is about 60-80% (for women) and for ovarian cancer about 20-40% (depending on the specific gene).
Men with a BRCA mutation have a higher risk of prostate cancer and, to a lesser extent, breast cancer.
Pancreatic cancer risk is also increased, though it is still relatively low.
Long-term outlook
The outlook for people with a BRCA mutation is better than ever. Because we know the risk, we can act early. With regular screening and modern treatments, many cancers are caught at an early, treatable stage. Preventive surgery can dramatically lower risk. If cancer does develop, there are targeted therapies that work very well. The key is to work with a specialist team and stay proactive about your health. Hope and a good quality of life are very possible.
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Always verify with your doctor
Health guidelines vary by country and region. The information in this article is based on international clinical guidelines but may not reflect the specific guidelines, medications, or practices in your country. Always discuss your health concerns with your own doctor or healthcare provider, and refer to your local national health guidelines where available.
Important notice This information is for educational purposes only. It does not replace professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider about your specific situation. If you are experiencing a medical emergency, call your local emergency services immediately.
Sources and guidance
This article is educational and is prepared with reference to recognized health information and clinical guidance sources where available. Specific source links may vary by topic.
Last updated: July 9, 2026
Educational note: This information is for education only and is not a diagnosis.
Use it to support, not replace, advice from a licensed clinician.
If symptoms are severe, worsening, or urgent, call your local emergency number or seek emergency care.
