Back to Search Start Over

DNA damage targeted therapy for advanced breast cancer

Authors :
Vanessa Patel
Sandra Casimiro
Catarina Abreu
Tiago Barroso
Rita Teixeira de Sousa
Sofia Torres
Leonor Abreu Ribeiro
Gonçalo Nogueira-Costa
Helena Luna Pais
Conceição Pinto
Leila Costa
Luís Costa
Source :
Exploration of Targeted Anti-tumor Therapy, Vol 5, Iss 3, Pp 678-698 (2024)
Publication Year :
2024
Publisher :
Open Exploration Publishing Inc., 2024.

Abstract

Breast cancer (BC) is the most prevalent malignancy affecting women worldwide, including Portugal. While the majority of BC cases are sporadic, hereditary forms account for 5-10% of cases. The most common inherited mutations associated with BC are germline mutations in the BReast CAncer (BRCA) 1/2 gene (gBRCA1/2). They are found in approximately 5-6% of BC patients and are inherited in an autosomal dominant manner, primarily affecting younger women. Pathogenic variants within BRCA1/2 genes elevate the risk of both breast and ovarian cancers and give rise to distinct clinical phenotypes. BRCA proteins play a key role in maintaining genome integrity by facilitating the repair of double-strand breaks through the homologous recombination (HR) pathway. Therefore, any mutation that impairs the function of BRCA proteins can result in the accumulation of DNA damage, genomic instability, and potentially contribute to cancer development and progression. Testing for gBRCA1/2 status is relevant for treatment planning, as it can provide insights into the likely response to therapy involving platinum-based chemotherapy and poly[adenosine diphosphate (ADP)-ribose] polymerase inhibitors (PARPi). The aim of this review was to investigate the impact of HR deficiency in BC, focusing on BRCA mutations and their impact on the modulation of responses to platinum and PARPi therapy, and to share the experience of Unidade Local de Saúde Santa Maria in the management of metastatic BC patients with DNA damage targeted therapy, including those with the Portuguese c.156_157insAlu BRCA2 founder mutation.

Details

Language :
English
ISSN :
26923114
Volume :
5
Issue :
3
Database :
Directory of Open Access Journals
Journal :
Exploration of Targeted Anti-tumor Therapy
Publication Type :
Academic Journal
Accession number :
edsdoj.fa11be9c99f54d4cac21777f0662aa8a
Document Type :
article
Full Text :
https://doi.org/10.37349/etat.2024.00241