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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Detalles Bibliográficos
Autores principales: Aitmagambetova, Marzhan, Smagulova, Gaziza, Bekmukhambetov, Yerbol, Zavalyonnaya, Oksana, Tulyaeva, Anar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Via Medica 2021
Materias:
Case Report
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
Descripción
Sumario: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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