Using genome and transcriptome data from women with African ancestry to identify new breast cancer genes

Women with African ancestry are underrepresented in genetics research. In a large study that included Sister Study participants with African ancestry, researchers examined the links between breast cancer risk and how genes are read and transcribed into proteins. Models for predicting gene transcription were built using data from normal breast tissue, and then applied to generate estimates of gene expression in 18,034 breast cancer cases and 22,104 controls, all of whom had African ancestry. Six genes were identified as being associated with breast cancer risk, including four genes not previously reported (CTD-3080P12.3, EN1, LINC01956 and NUP210L). Most of these genes showed a stronger association with risk of estrogen-receptor (ER) negative or triple-negative than ER-positive breast cancer. These genes have low frequency in the population, are associated with very small increases in risk, but his study sheds new light on the genetic basis of breast cancer and highlights the value of conducting research among women with African ancestry.

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Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes