Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer. British journal of cancer Guzman-Arocho, Y. D., Rosenberg, S. M., Garber, J. E., Vardeh, H., Poorvu, P. D., Ruddy, K. J., Kirkner, G., Snow, C., Tamimi, R. M., Peppercorn, J., Schapira, L., Borges, V. F., Come, S. E., Brachtel, E. F., Marotti, J. D., Warner, E., Partridge, A. H., Collins, L. C. 2021

Abstract

BACKGROUND: Breast cancer in young women is more likely to have higher risk features and be associated with germline BRCA1/BRCA2 mutations. We present the clinicopathologic features of breast cancers in a prospective cohort of young women, and associations between surrogate molecular subtype and BRCA1/BRCA2 mutation status.METHODS: Histopathological features, biomarker status, tumour stage and BRCA status were collected. Invasive tumours were categorised as luminal A-like (ER+and/or PR+, HER2-, grade 1/2), luminal B-like (ER+and/or PR+, HER2+, or ER+and/or PR+, HER2-, and grade 3), HER2-enriched (ER/PR-, HER2+) or triple-negative.RESULTS: In all, 57.3% (654/1143) of invasive tumours were high grade. In total, 32.9% were luminal A-like, 42.4% luminal B-like, 8.3% HER2-enriched, and 16.4% triple-negative. Among different age groups, there were no differences in molecular phenotype, stage, grade or histopathology. 11% (131) of tumours were from BRCA mutation carriers; 64.1% BRCA1 (63.1% triple-negative), and 35.9% BRCA2 (55.3% luminal B-like).DISCUSSION: The opportunity to provide comparisons across young age groups, BRCA mutation status, surrogate molecular phenotype, and the identification of more aggressive hormone receptor-positive phenotypes in this population provides direction for future work to further understand and improve disparate outcomes for young women with luminal B-like cancers, particularly BRCA2-associated cancers, with potential implications for tailored prevention and treatment.

View details for DOI 10.1038/s41416-021-01597-2

View details for PubMedID 34703009