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- Title
Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer.
- Authors
Guzmán-Arocho, Yaileen D.; Rosenberg, Shoshana M.; Garber, Judy E.; Vardeh, Hilde; Poorvu, Philip D.; Ruddy, Kathryn J.; Kirkner, Gregory; Snow, Craig; Tamimi, Rulla M.; Peppercorn, Jeffrey; Schapira, Lidia; Borges, Virginia F.; Come, Steven E.; Brachtel, Elena F.; Marotti, Jonathan D.; Warner, Ellen; Partridge, Ann H.; Collins, Laura C.
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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).<bold>Discussion: </bold>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.
- Subjects
PROTEIN metabolism; PROTEINS; RESEARCH; GENETIC mutation; AGE distribution; RESEARCH methodology; CELL receptors; EVALUATION research; COMPARATIVE studies; BREAST tumors; TUMOR grading; LONGITUDINAL method
- Publication
British Journal of Cancer, 2022, Vol 126, Issue 2, p302
- ISSN
0007-0920
- Publication type
journal article
- DOI
10.1038/s41416-021-01597-2