Work

BRCA2 and TP53 Mutations in a Breast Cancer Patient: A Case Report and Review of the Literature

Year: 2024

Type: article

Abstract: Hereditary breast cancer (BC) accounts for 5-10% of all BC cases. Pathogenic or likely pathogenic germline variants in BRCA1 and BRCA2 genes are the most common cause of hereditary BC. However, other genes may also be involved, such as TP53, PALB2, PTEN, ATM, and CHEK2, among others. Multigene tests are essential in the treatment approach to young BC patients, since the detection of specific mutations may help guide changes in preventive measures and treatment plans. This report describes a rare case of BC in a young patient with pathogenic germline variants in BRCA2 and TP53 genes and also presents a literature review of the topic.

Source: Cureus

DOI: 10.7759/cureus.71310

Authors: Jackeline Lopes Viana, Elisa Rosa de Carvalho Gonçalves Nunes, Cristiane Amaral dos Reis, Sabas Carlos Vieira

Institutions: Ovarian Cancer Canada, Voronezh Regional Clinical Oncology Center, Yuma Oncology Center

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4403348058