Science

Aleix Prat: Prevalence and clinical impact of germline pathogenic variants in breast cancer

Aleix Prat/clinicbarcelona.org

Apr 10, 2025, 15:53

Aleix Prat: Prevalence and clinical impact of germline pathogenic variants in breast cancer

Aleix Prat, Director of the Cancer Institute at the Hospital Clinic of Barcelona, shared a post on LinkedIn about a paper he co-authored with colleagues published in ESMO Open:

“Proud to share our latest article just published in ESMO Open.

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

In this retrospective study of 912 patients with breast cancer tested at the Clinic Barcelona Comprehensive Cancer Center between 2016 and 2023, we found that 14.1% carried a germline pathogenic variant (PV) – most frequently in BRCA2 (31.8%) and BRCA1 (24%).

Key highlights:

High-risk PV carriers were younger, with more bilateral disease, stage IV at diagnosis, and triple-negative BC
The basal-like subtype was overrepresented among PV carriers
PARP inhibitors were used in 12.9% of metastatic patients, and 13.1% of early BC patients met criteria for adjuvant PARPi
PV detection had a major impact on surgical decisions, including bilateral mastectomy and preventive salpingo-oophorectomy

These results support the routine use of germline testing to guide both prevention and treatment strategies – and to better identify candidates for targeted therapies like PARPi.

Huge congratulations to all co-authors and teams involved, especially Adela Rodríguez Hernández and Barbara Adamo for leading this important work!

Let’s keep pushing the boundaries of personalized cancer care!”

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

Authors: Adela Rodriguez-Hernandez, O. Martínez-Sáez, F. Brasó-Maristany, B. Conte, R. Gómez, T. Ramon Y Cajal, F. Balaguer, A. Prat, Barbara Adamo et al.

Aleix Prat: Prevalence and clinical impact of germline pathogenic variants in breast cancer