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

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...

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Autores principales: Aitmagambetova, Marzhan, Smagulova, Gaziza, Bekmukhambetov, Yerbol, Zavalyonnaya, Oksana, Tulyaeva, Anar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Via Medica 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281913/
https://www.ncbi.nlm.nih.gov/pubmed/34277102
http://dx.doi.org/10.5603/RPOR.a2021.0069
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author Aitmagambetova, Marzhan
Smagulova, Gaziza
Bekmukhambetov, Yerbol
Zavalyonnaya, Oksana
Tulyaeva, Anar
author_facet Aitmagambetova, Marzhan
Smagulova, Gaziza
Bekmukhambetov, Yerbol
Zavalyonnaya, Oksana
Tulyaeva, Anar
author_sort Aitmagambetova, Marzhan
collection PubMed
description 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.
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spelling pubmed-82819132021-07-16 A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1 Aitmagambetova, Marzhan Smagulova, Gaziza Bekmukhambetov, Yerbol Zavalyonnaya, Oksana Tulyaeva, Anar Rep Pract Oncol Radiother Case Report 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. Via Medica 2021-06-09 /pmc/articles/PMC8281913/ /pubmed/34277102 http://dx.doi.org/10.5603/RPOR.a2021.0069 Text en © 2021 Greater Poland Cancer Centre https://creativecommons.org/licenses/by-nc-nd/4.0/This article is available in open access under Creative Common Attribution-Non-Commercial-No Derivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) license, allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially
spellingShingle Case Report
Aitmagambetova, Marzhan
Smagulova, Gaziza
Bekmukhambetov, Yerbol
Zavalyonnaya, Oksana
Tulyaeva, Anar
A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title_full A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title_fullStr A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title_full_unstemmed A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title_short A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1
title_sort clinical case of diagnosis of breast cancer in patients with family history of brca mutations 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8281913/
https://www.ncbi.nlm.nih.gov/pubmed/34277102
http://dx.doi.org/10.5603/RPOR.a2021.0069
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