BRCA1, BRCA2, CHEK2 gene analysis

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The BRCA1, BRCA2, and CHECK2 genes will determine your individual risk of getting breast or ovarian cancer during your lifetime.

Breast cancer is a multifactorial disease, which means that its development is related both to the influence of environmental factors and individual genetic characteristics.

That is why early detection of the mutation allows us to assess the risk and take a number of preventive measures aimed at preventing or diagnosing the disease as early as possible.

The mutations we investigate:

  • Mutation - 1 BRCA1 185delAG
  • Mutation - 2 BRCA1 5382insC
  • Mutation - 3 BRCA1 Cys61Gly
  • Mutation - 4 BRCA1 4153delA
  • Mutation - 1 BRCA2 6174delT
  • Mutation - 1 kinase control 1100 delC cell cycle point CHEK2
  • Mutation - 2 kinase control IVS2+1G>A cell cycle point CHEK2

Who is eligible for genetic testing?


It is mandatory to see a geneticist and about the possibility of testing for mutations in the BRCA genes in yourself and your relatives, having one of the following indications:

    • There was at least 1 case of BC and/or OC in the family;
    • There have been cases of bilateral (bilateral) breast cancer in the family;
    • There have been cases of breast cancer in the family before the age of 50.


Mutations in the BRCA gene are inherited in an autosomal dominant pattern, so all blood relatives of BRCA mutation carriers are also likely to be carriers of this mutation.

They are the highest risk group for developing BC, with up to a 90% chance of developing malignant tumors over the course of their lives. This is why molecular genetic testing is extremely important for these people in order to answer the question of whether they carry the mutation.

Mutations in the BRCA1 gene have the following characteristics:

1. Increase up to 65% of lifetime risk of breast cancer
2. Increase by 40% to 60% the lifetime risk of developing a second breast cancer;
3. Increase up to 39% lifetime risk of developing ovarian cancer;
4. Increase the risk of other malignant epithelial tumors (e.g., prostate cancer, stomach cancer).

Mutations in the BRCA2 gene have the following effects:

1. Increase up to 45% lifetime risk of breast cancer in women and up to 6% in men;
2. Increase the lifetime risk of ovarian cancer by up to 11%;
3. Increase the risk of other malignancies such as melanoma, laryngeal cancer, gastric cancer, and gastric cancer.


It is extremely important to know that the detection of a mutation is not a verdict. On the contrary, it allows the physician and the patient to prevent the development of the disease.

Given the high risk of developing BC, carriers of mutations in the BRCA genes need a set of preventive measures for early diagnosis of the disease.

It is advisable to consult with a specialist oncologist who specializes in working with carriers of BC/RR predisposition mutations.

The benefits and necessity of genetic testing:


  • Analysis of mutations in BRCA genes can identify healthy people who are up to 90% likely to get cancer.
  • Analysis of frequent mutations in BRCA genes is an affordable and accessible procedure.
  • Healthy people with mutations in the BRCA gene need special preventive measures for early detection of malignancy.


This observation will make it possible to diagnose a tumor in its early stages, when the patient himself due to the asymptomatic course of the disease is not aware of its onset.

Early detection and treatment of the tumor prevents the formation of metastases, makes the surgery less traumatic for the patient, and allows us to begin effective therapy with the most modern medications.

According to statistics, the timely detection of tumors of the breast can avoid serious consequences and lead a full life in about 90% of patients.

Recommendations for prevention of BC/RBC in carriers of BRCA mutations:

  • Breast self-examination - from 18-20 years old (monthly)
  • Clinical examination - mammary glands and ovaries from 25-35 years old (1-2 times a year)
  • Mammography - from the age of 35 (annually)
  • Ultrasound - from 25-35 years old (1-2 times a year)
  • NMR tomography - from 25-35 years old (annually)
  • CA 125 monitoring from 25-35 years old with indications
  • Prophylactic mastectomy (with reconstruction) - by indication
  • Prophylactic oophorectomy (in postmenopause) - by indication