CLINICAL CASE: SYNCHRONOUS MALIGNANCY: LEFT BREAST AND OVARIAN CANCER ASSOCIATED WITH HEREDITARY BRCA1: 5382 INS C – MUTATION

  2. 2023
  3. CLINICAL CASE: SYNCHRONOUS MALIGNANCY: LEFT BREAST AND OVARIAN CANCER ASSOCIATED WITH HEREDITARY BRCA1: 5382 INS C – MUTATION

Kravchenko O. V., Bashtan O. P., Chornobai A. V., Mukovoz O. E., Hahal O. V.

CLINICAL CASE: SYNCHRONOUS MALIGNANCY: LEFT BREAST AND OVARIAN CANCER ASSOCIATED WITH HEREDITARY BRCA1: 5382 INS C - MUTATION

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About the author:

Kravchenko O. V., Bashtan O. P., Chornobai A. V., Mukovoz O. E., Hahal O. V.

Heading:

CLINICAL AND EXPERIMENTAL MEDICINE

Type of article:

Scientific article

Annotation:

Breast cancer (BC) is a heterogeneous group of malignant neoplasms of epithelial origin from cells of the ducts or lobes of the parenchyma of the mammary glands, which arises as a result of complex interactions between body systems that affect the transformation of cells under the influence of various carcinogens. In the structure of oncological morbidity in Ukraine, breast cancer occupies the first place. The incidence rate of breast cancer has increased 2.5 times over the past 30 years, with an annual increase of 7.1%. Ovarian cancer (OC) is a malignant tumour arising from the epithelial tissue of the ovaries. This type of cancer is the fifth most common among women. This work reviews the literature on the hereditary aspect of breast and ovarian tumours. Hereditary mutation in the BRCA1/2 genes, typically expressed in the tissues of the breast, ovaries and other organs to eliminate DNA damage or cell apoptosis, where DNA repair is not possible, cause in women the development of "Syndrome 2 BC/OC". This syndrome develops in women with this mutation, usually at a young age and causes the appearance of synchronous or metachronous pathology of the mammary gland and ovaries. Methods of laboratory detection of BRCA1/2 mutation, methods of early diagnosis, treatment and prevention of pathology are described in work on the example of the described clinical case, features of the course of tumours with the mutation mentioned above. International recommendations for patients requiring the mandatory determination of mutagenic status, who already have an existing oncological pathology, are considered for choosing a more effective treatment method. The importance of adequately examining patients to detect early forms of breast and ovarian cancer, which, according to the WHO definition, is curable in 85-95% of cases, is highlighted.

Tags:

BRCA 1\2 mutation, breast cancer, development risk, heredity, ovarian cancer

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Publication of the article:

«Bulletin of problems biology and medicine», 2023 Issue 2, 169, 244-251 pages, index UDC 618.11-006:618.19-006-085

DOI:

10.29254/2077-4214-2023-2-169-244-251

2023 Issue 2, 169
BRCA 1\2 mutation breast cancer development risk heredity ovarian cancer
29.06.2023
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