Cancer in the family
Breast or ovarian cancer in relatives is a reason to discuss a genetic test with a doctor.
Discuss your case 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 VISUALIZATIONA 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.
The mutation has no symptoms. They come in different situations.
Breast or ovarian cancer in relatives is a reason to discuss a genetic test with a doctor.
You've received your test results and want to understand your options, from surveillance to surgery.
Do you want to know how breasts are restored and what will change after a preventive mastectomy.
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.
A prophylactic mastectomy has already been done, and the reconstruction needs to be completed or corrected.
State after mastectomyEach carrier has its own risk. In a large prospective study of baby carriers, it was influenced by several things.
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.
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.
The risk increased if more first- and second-degree relatives had breast cancer.
The risk varied depending on which part of the gene the mutation was located in.
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.
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.
Which of the relatives was sick, with what cancer and at what age, did anyone undergo a genetic test.
Before the test, two meetings with the geneticist are desirable: what the test will show and what to do with the result.
Looks for a mutation in the BRCA1 and BRCA2 genes; genetics explains the result.
Supervision, medication or surgery — the woman decides together with the oncologist and the geneticist. If considering surgery, talk to the surgeon about reconstruction.
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.
To detect cancer as early as possible.
Appointed by an oncologist.
Removal of both breasts before cancer.
Immediately or later.
A separate decision with a gynecologist-oncologist.
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.
Plastic surgeon, candidate of medical sciences, founder of Dr. Valikhnovskyi Institute of Surgery.
Short answers. What is right for you, the doctor will tell you during the consultation.
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.
No. The NICE guideline advises those who refuse surgery to be monitored according to the level of risk. A woman chooses.
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.
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.
According to NICE, no follow-up is offered after removal of both breasts. How to observe further, the oncologist will say.
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.
Most are satisfied with the decision, but some regret it. Therefore, preparation, sufficient information and psychological support before and after surgery are important.
The figures on the page are from these sources.
Send the result of the genetic test and the conclusions of the doctors. The surgeon will explain how to reconstruct the breast if you choose surgery - the decision is up to you.
Leave your contact details and briefly describe the situation. A coordinator will contact you to agree on the next step.