Journal article

Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study

A Toss, E Blondeaux, E Tenedini, L Bonamici, R Graffeo, L Livraghi, C Villarreal-Garza, R Bernstein Molho, A Kwong, J Balmana, H Wildiers, E Agostinetto, KA Phillips, K Pogoda, T Renaud, C Rousset-Jablonski, A Ferrari, HCF Moore, FA Peccatori, S Paluch-Shimon Show all

Annals of Oncology | Published : 2026

DOI: 10.1016/j.annonc.2025.11.004

Abstract

Background: The clinical implications of specific pathogenic and likely pathogenic variant (LP/PV) types and locations in the BRCA1 or BRCA2 tumor-suppressor genes remain to be elucidated. Patients and methods: The BRCA BCY Collaboration (NCT03673306) is an international, multicenter, hospital-based, retrospective cohort study that included BRCA carriers diagnosed with invasive breast cancer at the age of ≤40 years between January 2000 and December 2020. In this analysis, only patients with detailed available information on LP/PVs in the BRCA genes were included. Clinicopathological features and survival outcomes [disease-free survival (DFS) and overall survival (OS)] were investigated accor..

View full abstract

University of Melbourne Researchers

Citation metrics

1Dimensions

Keywords

Brca2
3211 Oncology and Carcinogenesis
Variant Type
Clinical Research
Cancer
Women'S Health
Genetics
2.1 Biological and Endogenous Factors
Brca1
Breast Cancer
Overall Survival
32 Biomedical and Clinical Sciences
Protein-Truncating Variant
Hereditary Breast Cancer