Multinational retrospective study of clinical behavior of breast cancer in young BRCA mutation carriers

Over 10% of women diagnosed with breast cancer at age 40 years or younger (‘young patients’) are expected to carry a germline pathogenic/likely pathogenic variant (PV) in the BRCA genes. A retrospective study carried out in 78 centers worldwide investigated the clinical behavior of breast cancer in young BRCA1 versus BRCA2 carriers and the association of prediagnostic awareness of germline BRCA status with prognosis. In this study including 4,752 young BRCA carriers with breast cancer, distinct patient, tumor, and treatment characteristics and a different pattern and risk of disease-free survival events over time were observed between BRCA1 and BRCA2 carriers. The identification of carrying BRCA pathogenic/ likely pathogenic variants in healthy individuals was associated with earlier-stage breast cancer at diagnosis and lower treatment burden, as well as better unadjusted overall survival. The authors conclude that the study provides evidence on the different clinical behavior of breast cancer in young BRCA1 and BRCA2 carriers.