Article
Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry.
Human genetics - 1 Oct 2021
Chen Zhishan, Guo Xingyi, Long Jirong, Ping Jie, Li Bingshan, Fadden Mary Kay, Ahearn Thomas U, Stram Daniel O, Shu Xiao-Ou, Jia Guochong, Figueroa Jonine, Palmer Julie R, Sanderson Maureen, Haiman Christopher A, Blot William J, Garcia-Closas Montserrat, Cai Qiuyin, Zheng Wei
Abstract excerpt
Single germline nucleotide pathogenic variants have been identified in 12 breast cancer predisposition genes, but structural deletions in these genes remain poorly characterized. We conducted in-depth whole genome sequencing (WGS) in genomic DNA samples obtained from 1340 invasive breast cancer cases and 675 controls of African ancestry. We identified 25 deletions in the intragenic regions of ten established...
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