Vol 26, No 3 (2021)
Case report
Published online: 2021-04-08

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A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1

Marzhan Aitmagambetova1, Gaziza Smagulova1, Yerbol Bekmukhambetov2, Oksana Zavalyonnaya1, Anar Tulyaeva1
Rep Pract Oncol Radiother 2021;26(3):463-469.

Abstract

BACKGROUND: The incidence of breast cancer is growing rapidly worldwide (1.7 million new cases and 600,000 deaths per year). Moreover, about 10% of breast cancer cases occur in young women under the age of 45. The aim of the study was to report a rare case of BRCA1-mutated breast cancer in a young patient with multiple affected relatives.

CASE PRESENTATION: Breast cancer is due to a genetic predisposition with BRCA1 and BRCA2 representing a significant proportion of families with a very high risk of developing the disease over a lifetime of up to 50–80%.

In this paper we report a case of a 29-year-old woman with a confirmed diagnosis of left breast carcinoma.

CONCLUSIONS: Mutations of the BRCA1 gene were revealed in the patient, in two of her sisters, brother and brother’s daughter.

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