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Case Reports
. 2021 Jun 9;26(3):463-469.
doi: 10.5603/RPOR.a2021.0069. eCollection 2021.

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

Marzhan Aitmagambetova  1 , Gaziza Smagulova  1 , Yerbol Bekmukhambetov  2 , Oksana Zavalyonnaya  1 , Anar Tulyaeva  1
Affiliations
Case Reports

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

Marzhan Aitmagambetova et al. Rep Pract Oncol Radiother. .

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 BRCA 1-mutated breast cancer in a young patient with multiple affected relatives. 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%.

Case presentation: 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.

Keywords: BRCA mutation; breast cancer; case report; heredity.

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Conflict of interest statement

Conflict of interest None declared.

Figures

Figure 1
Figure 1
PET-CT of the mammary glands
Figure 2
Figure 2
The pedigree of patient under study
See this image and copyright information in PMC

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