Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

ConclusionsUsing extended gene-based aggregation tests including coding and regulatory variation, we report identification of plausible target genes for previously identified single-marker associations with BC as well as the discovery of novel genes implicated in BC development. Including multi ancestral cohorts in this study enabled the identification of otherwise missed disease associations asESR1 (P = 1.31 × 10−5), demonstrating the importance of diversifying study cohorts.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research