Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study

The identification of germline PVs significantly influences surgical decisions and systemic therapies. Genetic testing for patients with BC optimizes care, particularly in selecting candidates for PARPi in both early and advanced BC, improving management and prevention strategies.

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Publication Details

Journal
ESMO Open
Published
2025-04-01
DOI
https://doi.org/10.1016/j.esmoop.2025.104543
Citations
6
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
10.90
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article

Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study

María Vidal, Bárbara Adamo, O. Martínez-Sáez, Josep Oriola et al.
6 citations
ESMO Open
BRCA gene mutations in cancer
10.90
article

Prevalence and clinical impact of germline pathogenic variants in breast cancer: a descriptive large single-center study

María Vidal, Bárbara Adamo, O. Martínez-Sáez, Josep Oriola, Míriam Potrony, P. Galvan, O. Castillo, Teresa Ramón y Cajal, P. Blasco, R. M. S. Gomez, Francesc Balaguer, E. Grau, F. Brasó-Maristany, V. Sirenko, Isabel García-Fructuoso, Beatrice Fratini, Montserrat Aceituno, Andrew J. Aguirre, Montserrat Muñoz-Mateu, Elia Seguí, Joan Anton Puig‐Butillé, G. Goberna, Lorena Moreno, Aleix Prat, E. Sanfeliu, A. Rodriguez-Hernandez, B. Conte
article en
6 citations

Abstract

The identification of germline PVs significantly influences surgical decisions and systemic therapies. Genetic testing for patients with BC optimizes care, particularly in selecting candidates for PARPi in both early and advanced BC, improving management and prevention strategies.

ESMO OpenVol. 10(4)
Breast Cancer Research Foundation (US), Centro de Investigación Biomédica en Red (ES), Hospital Clínic de Barcelona (ES), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (ES), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Instituto de Investigación de Enfermedades Raras (ES), Azienda Ospedaliera Universitaria Pisana (IT), Universitat de Barcelona (ES)
Openalex Percentile: Top 2%
BRCA gene mutations in cancer
10.90
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