Mutations in BRCA genes


Oncological diseases can be caused by external and internal factors. External factors, carcinogens, are responsible for about 30% of all cases of malignant tumors. The remaining 70% may arise under the influence of internal factors, some of which are well studied. These include mutations in the genes BRCA 1, 2. carriers of this mutation are at risk for the development of various malignant neoplasms:

  • breast cancer;
  • ovaries;
  • prostate gland;
  • pancreas;
  • stomach.

The frequency of mutations in BRCA 1.2 genes in the population is 1: 800-1: 1000 cases. It varies depending on the geographical location and ethnicity of a particular person.

Most often, mutations in the BRCA-1,2 genes lead to the development of breast cancer (BC) and ovarian cancer (OC). It is characterized by the occurrence at an early age and an aggressive course.

This mutation is germinal, i.e. passed from parent to child. The chances of passing the damaged gene to offspring are 50%. Often, a burdened family history helps to suspect the presence of this mutation, which makes it possible to trace the development of the above malignant diseases in close relatives. It is such patients who should first consult a geneticist, who will help determine the appropriate amount of medical genetic testing. Venous blood may be sufficient to detect the mutation.

Determination of mutation in a patient with a malignant neoplasm:

  • allows you to change his treatment plan;
  • determines the need to inform relatives who may be at risk.

In case of detection of a mutation in the BRCA 1,2 genes, the geneticist can prescribe both preventive monitoring and observation (the frequency and methods of examination are discussed during genetic counseling and consultation with an oncologist) and Surgical Prevention of breast cancer (the most effective method of primary prevention of breast cancer to date).

Much attention to this problem was attracted by the famous actress Angelina Jolie. In 2013, she performed a preventive mastectomy (removal of the mammary glands). Jolie's mother died at the age of fifty-six from ovarian cancer. After genetic testing, the celebrity learned that she inherited from her mother a mutation in the BRCA1 gene. Jolie had her breasts removed and underwent surgery to reconstruct them with implants. Later, in 2015, the actress performed an ovariectomy (a procedure to remove the ovaries). The majority of doctors approved both decisions of the celebrity and gave her credit for popularizing genetic testing and showing by her own example that modern genetics allows you to identify a predisposition to certain diseases, and evidence – based medicine-to take timely measures to avoid their development.

In Russia, preventive mastectomies have been officially performed since 2010. All women under 45 years of age with an established diagnosis of breast cancer undergo a genetic study. In case of detection of mutation, it is possible to carry out preventive mastectomy of the second breast. Preventive removal of mammary glands only on the basis of identified mutations, without an established diagnosis of “cancer”, is impossible in our country. To the great disappointment of some women who are ready for Surgical Prevention of cancer with the ability to perform reconstruction using implants.

Thus, the detection of mutations in the BRCA-1, 2 genes is not a verdict. This is a reason to reconsider your attitude to life:

  • consult a geneticist to draw up a survey plan, determine the scope of preventive measures;
  • give up bad habits;
  • switch to proper nutrition;
  • increase physical activity.

The whole complex of these measures has been proven to reduce the risk of developing any malignant neoplasms. And most importantly, it is a reminder of how important it is to come to the doctor on time, perform a diagnostic procedure, think about your future and the future of your family.

GBUZ Moscow Clinical Scientific Center named after Loginov MHD