Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer

Y.D. Guzman-Arocho, S.M. Rosenberg, J.E. Garber, H. Vardeh, P.D. Poorvu, K.J. Ruddy, G. Kirkner, C. Snow, R.M. Tamimi, J. Peppercorn, L. Schapira, V.F. Borges, S.E. Come, E.F. Brachtel, J.D. Marotti, E. Warner, A.H. Partridge, L.C. Collins*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.
Original languageEnglish
Pages (from-to)302-309
Number of pages8
JournalBritish Journal of Cancer
Issue number2
Early online date26 Oct 2021
Publication statusPublished - 1 Feb 2022


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