Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer
BRITISH JOURNAL OF CANCER(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.
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Key words
Breast cancer,Biomedicine,general,Cancer Research,Epidemiology,Molecular Medicine,Oncology,Drug Resistance
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