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.
Authors
- Cristiane Amaral dos Reis (ORCID: https://orcid.org/0000-0002-3807-3382)
- Sabas Carlos Vieira (ORCID: https://orcid.org/0000-0003-0935-7316)
- Elsa Nunes
- Jackeline Lopes Viana
Institutions
- Institut National d'Oncologie (MA)
Publication Details
- 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