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.
Authors
- María Vidal (ORCID: https://orcid.org/0000-0003-1992-5727)
- Bárbara Adamo (ORCID: https://orcid.org/0000-0001-7129-8156)
- O. Martínez-Sáez
- Josep Oriola (ORCID: https://orcid.org/0000-0002-8743-7277)
- Míriam Potrony (ORCID: https://orcid.org/0000-0003-2766-0765)
- P. Galvan
- O. Castillo
- Teresa Ramón y Cajal (ORCID: https://orcid.org/0000-0003-3490-3585)
- P. Blasco (ORCID: https://orcid.org/0000-0002-8858-210X)
- R. M. S. Gomez
- Francesc Balaguer (ORCID: https://orcid.org/0000-0002-0206-0539)
- E. Grau
- F. Brasó-Maristany
- V. Sirenko
- Isabel García-Fructuoso (ORCID: https://orcid.org/0000-0002-7417-4703)
- Beatrice Fratini (ORCID: https://orcid.org/0000-0003-4727-6605)
- Montserrat Aceituno (ORCID: https://orcid.org/0000-0003-0352-9527)
- Andrew J. Aguirre (ORCID: https://orcid.org/0000-0002-0701-6203)
- Montserrat Muñoz-Mateu (ORCID: https://orcid.org/0000-0001-7772-1437)
- Elia Seguí (ORCID: https://orcid.org/0000-0001-7770-9825)
- Joan Anton Puig‐Butillé (ORCID: https://orcid.org/0000-0003-4345-9631)
- G. Goberna
- Lorena Moreno (ORCID: https://orcid.org/0000-0002-7354-731X)
- Aleix Prat
- E. Sanfeliu
- A. Rodriguez-Hernandez (ORCID: https://orcid.org/0009-0008-2268-4307)
- B. Conte
Institutions
- 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)
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