BRCA-BCY Collaboration on young BRCA-patients

This study presented at ASCO 2024 by Dr Luca Arecco in the oral abstract session focused on early-stage breast cancer among young patients carrying BRCA1 or BRCA2 pathogenic variants, as part of the BRCA BCY collaboration, a multinational retrospective cohort study. The inclusion criteria encompassed patients aged 40 or younger at diagnosis with stage I to III invasive breast cancer.

Two primary objectives guided the analysis: first, to evaluate the prognostic impact of hormone receptor status in young BRCA carriers, and second, to explore how tumour subtypes influence prognosis in this cohort.

The findings indicated that hormone receptor status did not confer a robust positive prognostic value among young BRCA carriers with early breast cancer. Patients with luminal A-like disease, typically associated with lower recurrence risk and better prognosis in the general population, exhibited a contrasting outcome in young BRCA carriers. Those luminal A-like disease patients showed worse disease-free survival compared to other cancer subtypes.

Existing literature supports the observation that HR+ disease, particularly in young patients with BRCA2 pathogenic variants, correlates with a poorer prognosis. Future directions for this research include genomic assessments to ascertain whether young BRCA carriers face elevated recurrence risks compared to patients with sporadic breast cancer matched for similar pathological and clinical characteristics.