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Determination of mutations in BRCA1 and BRCA2 genes (risk of breast cancer)

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Nelya Muzychuk
Nelya Muzychuk
General practitioners, therapist
How to prepare for testing?
You can drink clean still water
You can drink clean still water
Why this test?

To identify the risk of breast cancer.

In what cases is it prescribed?
  • In cases of breast and ovarian cancer in the family history (in relatives of the 1st and 2nd degree of consanguinity, especially if they got sick at an early age).
  • With bilateral breast cancer in the patient and/or her relatives.
  • With breast and prostate cancer in men with a family history.
  • With multiple primary tumors in different organs in the patient and/or her relatives.
  • If two or more relatives of the patient had tumors of the same localization, rare forms of cancer.
  • In atypical proliferative diseases of the mammary gland.
  • When a tumor appears at an early age.
  • When BRCA1 or BRCA2 gene mutations are detected in relatives.
Test information

Breast cancer and ovarian cancer are among the most common oncological diseases. The presence of mutations in the BRCA1 or BRCA2 genes can increase the probability of breast cancer by more than 5 times, and ovarian cancer by 10-28 times. At the same time, the average age of development of the disease decreases to 25-30 years, and the older a person is, the higher the probability of cancer.

Identified family cases of the disease primarily indicate the hereditary nature of cancer and require genetic analysis. The BRCA1 and BRCA2 genes are involved in the protection of the body against spontaneous DNA damage, therefore, a violation of their work allows for the accumulation of mutations and leads to oncological diseases, and primarily to breast and ovarian cancer. It is known that cancer associated with BRCA genetic markers is characterized by a high degree of malignancy and pronounced lymphoid infiltration. This study allows us to analyze the most common genetic markers (85% among all hereditary forms of breast and ovarian cancer), the presence of which indicates an increased risk of the disease. 

The population frequency of mutations in the BRCA1 and BRCA2 genes is no more than 1%. But at the same time, the risk of developing breast cancer or ovarian cancer during life for women who have a genetic predisposition to them reaches 80%.
It is important that the analysis can be carried out at any age and if violations are detected according to the specified markers, treatment will be started in a timely manner.

For the successful treatment of oncological diseases, it is very important to detect the tumor at an early stage, even before symptoms appear. Therefore, a genetic predisposition to breast and ovarian cancer is a very serious indication for regular examination in order to detect the disease at an early stage.

Risk factors for the development of breast cancer: smoking; stress (affects the general state of the body, the immune system, which is responsible for fighting atypical cells); alcohol abuse; proliferative diseases of the mammary gland; later onset of menopause; late childbirth; infertility; primary ovarian cancer, endometrial, colorectal cancer; folate cycle gene defects (MTHFR); radiation therapy (significantly increases the risk, especially in women younger than 30); ionizing radiation.

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