A recent study has established possible target genes for previously identified single-marker associations with breast cancer as well as novel genes implicated in breast cancer development. The results of this study were published in the Journal of Genome medicine.
The potential for gene-based aggregation was assessed in 83,471 cases and 59,199 controls and low-frequency variants were compiled for individual genes’ coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort. Meta-analysis of gene-based associations across individuals with European, Asian, African, and Latin American, and Hispanic ancestry was also performed.
This study demonstrated that 14 genes were significantly associated with breast cancer in European ancestry samples. Meta-analysis of samples with diverse ancestry identified candidate gene ESR1. Furthermore, the literature review and database query found a plausible link with cancer for genes CBLB, FMNL3, FGFR2, LSP1, MAP3K1, and SRGAP2C.
Mueller, S. H., Lai, A. G., Valkovskaya, M., et al. (2023). Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome medicine, 15(1), 7. https://pubmed.ncbi.nlm.nih.gov/36703164/