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

Hereditary breast cancer (BC) accounts for 5-10% of all BC cases. Pathogenic or likely pathogenic germline variants in <i>BRCA1</i> and <i>BRCA2</i> genes are the most common cause of hereditary BC. However, other genes may also be involved, such as <i>TP53</i>, <i>PALB2</i>, <i>PTEN</i>, <i>ATM</i>, and <i>CHEK2,</i> 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 <i>BRCA2</i> and <i>TP53</i> genes and also presents a literature review of the topic.

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Journal
Cureus
Published
2024-10-12
DOI
https://doi.org/10.7759/cureus.71310
Citations
2
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
1.10
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article

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

Cristiane Amaral dos Reis, Sabas Carlos Vieira, Elsa Nunes, Jackeline Lopes Viana
2 citations
Cureus
BRCA gene mutations in cancer
1.10
article

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

Cristiane Amaral dos Reis, Sabas Carlos Vieira, Elsa Nunes, Jackeline Lopes Viana
article en
2 citations

Abstract

Hereditary breast cancer (BC) accounts for 5-10% of all BC cases. Pathogenic or likely pathogenic germline variants in <i>BRCA1</i> and <i>BRCA2</i> genes are the most common cause of hereditary BC. However, other genes may also be involved, such as <i>TP53</i>, <i>PALB2</i>, <i>PTEN</i>, <i>ATM</i>, and <i>CHEK2,</i> 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 <i>BRCA2</i> and <i>TP53</i> genes and also presents a literature review of the topic.

CureusVol. 16(10)
Institut National d'Oncologie (MA)
Good health and well-being
Openalex Percentile: Top 19%
BRCA gene mutations in cancer
1.10
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