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Breast cancer can be broadly classified as hereditary (5%-10%) and sporadic.1 Hereditary breast cancer is primarily the result of germline pathogenic or likely pathogenic variants (GPVs) in BRCA1, BRCA2, PALB2, ATM, and CHEK2.2 The clinicopathological and molecular characteristics across genes, based on immunohistochemical and intrinsic subtype classifications, support distinct pathways to tumorigenesis.
Purpose: Black women experience the highest breast cancer mortality rate compared to women of other racial/ethnic groups. To gain a deeper understanding of breast cancer heterogeneity across diverse populations, we examined a VEGF-hypoxia gene expression signature in breast tumors from women of diverse ancestry. Experimental Design: We developed a NanoString nCounter gene expression panel and applied it to breast tumors from Nigeria (n=182) and the University of Chicago (n=161).
Abstract Black women across the African diaspora experience more aggressive breast cancer with higher mortality rates than white women of European ancestry. Although inter-ethnic germline variation is known, differential somatic evolution has not been investigated in detail.
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