CONDITION / BREAST

BRCA mutation.

A BRCA mutation is an inherited change in the BRCA1 or BRCA2 gene that increases the risk of breast and ovarian cancer. This is a risk, not a diagnosis. There are several ways — regular monitoring, medication or preventive surgery — and the woman chooses together with the geneticist and the oncologist.

Conceptual visualization: silhouette of a female torsoCONCEPTUAL VISUALIZATION
What it is
An inherited change in the BRCA1 or BRCA2 gene that increases the risk of breast and ovarian cancer.
This is not a diagnosis
A mutation means risk, not cancer. It depends on the gene, family history and location of the mutation.
Options
Regular supervision, medication or preventive surgery. None are required.
Who leads
Geneticist and oncologist; the clinic reconstructs the breast if the woman has chosen surgery.

What does it mean?
BRCA mutation.

A BRCA mutation is an inherited change in the BRCA1 or BRCA2 gene. It is detected by a genetic test; you should talk to your doctor about it if you have a family history of breast or ovarian cancer.

The risk of mutation is high. In a prospective study of 9,856 carriers, the risk of breast cancer by age 80 was 72% for BRCA1 and 69% for BRCA2. This is a risk, not a diagnosis: not every carrier will get sick.

Knowing about the mutation gives you a choice: monitor your breasts to detect cancer as early as possible, reduce your risk with medication or surgery. Neither path is mandatory, and the decision is made by the woman.

The British NICE guideline advises that both genetic testing and any decision about prophylactic surgery should be preceded by genetic counseling. The US NCCN guideline also emphasizes multidisciplinary consultation and collaboration.

This is general information. The doctor will tell you what will suit you after the consultation.

when
apply

The mutation has no symptoms. They come in different situations.

01

Cancer in the family

Breast or ovarian cancer in relatives is a reason to discuss a genetic test with a doctor.

02

The mutation has just been discovered

You've received your test results and want to understand your options, from surveillance to surgery.

03

Thinking about surgery

Do you want to know how breasts are restored and what will change after a preventive mastectomy.

04

Cancer in one breast

With the mutation, they decide what to do with the second breast: in a prospective study, the risk of cancer in it over 20 years was 40% for BRCA1 and 26% for BRCA2.

05

After mastectomy

A prophylactic mastectomy has already been done, and the reconstruction needs to be completed or corrected.

State after mastectomy

It depends on what
risk

Each carrier has its own risk. In a large prospective study of baby carriers, it was influenced by several things.

Gen

The risk of breast cancer by age 80 is similar for BRCA1 and BRCA2 (72% and 69%), but for ovarian cancer is different: 44% for BRCA1 and 17% for BRCA2.

age

Breast cancer became more frequent at a young age: up to 30–40 years with BRCA1 and up to 40–50 years with BRCA2, then the frequency remained at approximately the same level.

Family history

The risk increased if more first- and second-degree relatives had breast cancer.

Site of mutation

The risk varied depending on which part of the gene the mutation was located in.

When to seek medical advice?

The mutation itself does not require emergency care: it is a planned conversation with a geneticist, an oncologist and a surgeon. Emergency situations are possible only after surgery.

103 immediately after surgery if:

  • very difficult to breathe;
  • breathing is very frequent;
  • pain in the chest or upper back;
  • the heart beats very often;
  • the person fainted;
  • bleeding from a wound that cannot be stopped;
  • confusion, slurred speech;
  • the skin has become bluish, pale or mottled;
  • very high or very low temperature, chills.

To the doctor:

Immediately - to the surgeon who operated: breasts quickly increase and become tight; sudden or increasingly severe pain or swelling; blood flows from the wound, but it can be stopped by pressing; the eyelid changed color or became cold, the hand suddenly went numb. If you cannot contact the surgeon, go to the reception department. Without delay - to the doctor: tightness or swelling in the chest, armpit, or chest; changes in the skin of the breast, such as indentation or "orange peel"; discharge from the nipple; changing the shape of the nipple. Don't wait for a routine MRI. Planned: genetic counseling if there was breast or ovarian cancer in the family; talk about surveillance or prevention if a mutation is found.

How to determine
risk and plan.

  1. Family history

    Which of the relatives was sick, with what cancer and at what age, did anyone undergo a genetic test.

  2. Genetic counseling

    Before the test, two meetings with the geneticist are desirable: what the test will show and what to do with the result.

  3. Genetic test

    Looks for a mutation in the BRCA1 and BRCA2 genes; genetics explains the result.

  4. Plan

    Supervision, medication or surgery — the woman decides together with the oncologist and the geneticist. If considering surgery, talk to the surgeon about reconstruction.

Which are
options

There is no right way for everyone. The guidelines recommend discussing each option—its benefits, risks, and alternatives—and making a decision with your doctor.

01

Supervision

To detect cancer as early as possible.

MRI every year
The NICE guideline advises an annual breast MRI for carriers aged 30 to 49, and an annual mammogram between 40 and 69. From the age of 50 to 69, an MRI is offered only if the mammography showed dense breast tissue.
What gives
In an international cohort of 2488 carriers, MRI surveillance was associated with lower breast cancer mortality in BRCA1 (hazard ratio 0.20); for BRCA2 data is not yet sufficient.
Self-examination
Check your breasts regularly to know what's normal for you and to notice changes.
02

Medicines

Appointed by an oncologist.

Chemoprophylaxis
Hormonal drugs for 5 years. According to NICE, they reduce the risk of invasive breast cancer but have no effect on mortality and have side effects. They are not prescribed after prophylactic mastectomy.
03

Prophylactic mastectomy

Removal of both breasts before cancer.

Cancer risk
In a meta-analysis of 4 prospective studies (2635 carriers), the risk of breast cancer after surgery was significantly lower (hazard ratio 0.07). The risk is reduced, but not to zero.
What has not been clarified
Whether the operation prolongs life is still unclear. All 61 studies in the Cochrane review are observational, there are no randomized studies.
nipple
In a series of 548 prophylactic mastectomies with preservation of the nipple for a median of 34 months, no cancer was detected in the operated breast; observation is still short.
Repeat operations
According to a Cochrane review of case series, the frequency of unplanned reoperations ranged from 4% in women without reconstruction to 64% in women with reconstruction.
A find
Sometimes cancer is found during analysis of the removed tissue. NICE advises discussing this possibility before surgery.
04

Reconstruction

Immediately or later.

Options
Own tissues or an implant, immediately during the mastectomy or later. NICE advises discussing these with a surgeon who specializes in breast reconstruction.
Feeling
The reconstructed breast looks and feels different than your own; surgery can affect body image and sexuality. They talk about it in advance.
05

Psychological side

After surgery
In the Cochrane review, most studies reported high decision satisfaction and lower cancer anxiety, but lower body satisfaction and sexual feelings.
it's a pity
According to a review of 30 studies, some women regretted the decision. This was due to complications, body changes, stress and lack of information.
Quality of life
According to a meta-analysis of 34 studies, after prophylactic mastectomy, the quality of life in 13 of 15 studies did not change or improved, despite temporary difficulties immediately after the operation. Body image did not change in 7 out of 13 studies, and worsened in 6 out of 13.
support
NICE advises psychological counseling before the operation and access to support groups and women who have been through it.
06

Ovaries

A separate decision with a gynecologist-oncologist.

Preventive removal
The ovaries and fallopian tubes are removed to reduce the risk of ovarian cancer. NICE advises delaying this operation until the woman has completed family planning and discussing early menopause.
The evidence
According to a Cochrane review, surgery may prolong the life of carriers, but the certainty of the evidence is very low.

How
we treat it.

If a woman with a BRCA mutation has chosen prophylactic mastectomy, at Dr. Valikhnovskyi's Institute of Surgery, breasts are reconstructed in the direction of "Mammary gland reconstruction" - at once or later, with own tissues or implants. The woman makes the decision about the operation together with the geneticist and the oncologist. Genetic counseling, supervision, medication and ovarian decisions are provided by specialist doctors.

CLINIC SERVICE Breast reconstruction Breasts after mastectomy - with own tissues, implants or fat, immediately or later. View service

What we do for this condition

  • Prophylactic mastectomy with one-moment reconstruction — a plan is drawn up together with a geneticist and an oncologist.
  • DIEP flap — skin and fat from the lower part of the abdomen, rectus abdominis muscles remain; vessels are sutured under a microscope.
  • PAP flap — tissues from the back-inner surface of the thigh; an option when DIEP is not available or desirable.
  • Implants and expanders — an implant immediately or an expander first; over or under the muscle, with dermal matrix or mesh as needed.
  • Lipofilling — own fat provides volume and contour.
  • Nipple and areola — if the nipple was not preserved — a nipple made of local tissues and a medical tattoo of the areola.

Rostislav Valikhnovskyi

Plastic surgeon, candidate of medical sciences, founder of Dr. Valikhnovskyi Institute of Surgery.

How treatment works with us

  1. Documents onlineSend the result of the genetic test, the conclusions of the geneticist and the oncologist, the results of the MRI or mammography.
  2. ConsultationWhat reconstruction options are possible, what to expect, how the breast changes.
  3. The solutionYou approve it together with a geneticist and an oncologist; the surgeon answers questions about the operation.
  4. SurgeryMastectomy with reconstruction according to the agreed plan.
  5. RecoveryExaminations at the surgeon; if necessary, revision stages after several months.

Common
questions

Short answers. What is right for you, the doctor will tell you during the consultation.

Does a BRCA mutation mean I will get cancer?

No. This is a high risk, not a diagnosis: not every carrier will get sick. The risk depends on the gene, family history and location of the mutation.

Is it necessary to remove the breast?

No. The NICE guideline advises those who refuse surgery to be monitored according to the level of risk. A woman chooses.

How does surgery reduce the risk?

In a meta-analysis of 4 prospective studies, the risk of breast cancer after prophylactic mastectomy was significantly lower. Whether it prolongs life has not yet been determined.

Is it possible to save the nipple?

Sometimes yes. In a series of 548 such operations in BRCA carriers for a median of 34 months, no cancer was detected in the operated breast, but the follow-up is short. Whether it suits you is decided individually.

Is an MRI necessary after prophylactic mastectomy?

According to NICE, no follow-up is offered after removal of both breasts. How to observe further, the oncologist will say.

And what about the ovaries?

This is a separate decision with a gynecologist-oncologist. NICE advises postponing removal of the ovaries and fallopian tubes until a woman has completed family planning and discussing early menopause.

Do women regret the operation?

Most are satisfied with the decision, but some regret it. Therefore, preparation, sufficient information and psychological support before and after surgery are important.

Sources

16 sources · NICE and NCCN guidelines, Cochrane reviews, meta-analyses, cohorts and NHS
showCollapse
  1. Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer (CG164) — RecommendationsNICE, 2023nice.org.uk/guidance/cg164/chapter/Recommendations ↗
  2. NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate, Version 2.2026Journal of the National Comprehensive Cancer Network, 2026doi:10.6004/jnccn.2026.0007 ↗
  3. Society of Surgical Oncology Breast Disease Site Working Group Statement on Bilateral Risk-Reducing Mastectomy: Indications, Outcomes, and RisksAnnals of Surgical Oncology, 2025doi:10.1245/s10434-024-16484-2 ↗
  4. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation CarriersJAMA, 2017doi:10.1001/jama.2017.7112 ↗
  5. Risk-reducing mastectomy for the prevention of primary breast cancerCochrane Database of Systematic Reviews, 2018doi:10.1002/14651858.CD002748.pub4 ↗
  6. Bilateral risk-reduction mastectomy in BRCA1 and BRCA2 mutation carriers: a meta-analysisAnnals of Surgical Oncology, 2015doi:10.1245/s10434-015-4532-1 ↗
  7. MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence VariationsJAMA Oncology, 2024doi:10.1001/jamaoncol.2023.6944 ↗
  8. Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional StudyJAMA Surgery, 2018doi:10.1001/jamasurg.2017.3422 ↗
  9. Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutationsCochrane Database of Systematic Reviews, 2018doi:10.1002/14651858.CD012464.pub2 ↗
  10. A systematic review of women's satisfaction and regret following risk-reducing mastectomyPatient Education and Counseling, 2017doi:10.1016/j.pec.2017.06.032 ↗
  11. Quality of life after risk-reducing surgery for breast and ovarian cancer prevention: a systematic review and meta-analysisAmerican Journal of Obstetrics and Gynecology, 2023doi:10.1016/j.ajog.2023.03.045 ↗
  12. Causes of breast cancer in womenNHS, 2024nhs.uk/conditions/breast-cancer-in-women/causes-of-breast-cancer-in-women ↗
  13. Symptoms of breast cancer in womenNHS, 2024nhs.uk/conditions/breast-cancer-in-women/symptoms-of-breast-cancer-in-women ↗
  14. MastectomyNHS, 2025nhs.uk/tests-and-treatments/mastectomy ↗
  15. SepsisNHS, 2026nhs.uk/conditions/sepsis ↗
  16. Cuts and grazesNHS, 2026nhs.uk/conditions/cuts-and-grazes ↗

The figures on the page are from these sources.

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