Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer

Filipa Esteves,Joana M. Xavier,Anthony M. Ford,Cátia Rocha,Paul D.P. Pharoah,Carlos Caldas,Suet-Feung Chin,Ana-Teresa Maia

European Journal of Cancer（2022）

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摘要

•Case-control analysis using AE as a phenotype detects risk associations.•AE of STXBP4 and COX11 in breast tissue and blood associates with BC risk.•rs17817901 and rs8066588 are putative cis-regulatory risk-causing variants.•Biological risk mechanisms likely involve altered miRNA and protein binding.

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关键词

Allelic expression,Breast cancer,Genetic risk,Cis-acting variants,Expression regulation,Functional genomics

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