Article
Development and evaluation of polygenic risk scores for prediction of endometrial cancer risk in European women.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2022
Bafligil Cemsel, Thompson Deborah J, Lophatananon Artitaya, Ryan Neil A J, Smith Miriam J, Dennis Joe, Mekli Krisztina, O'Mara Tracy A, Evans D Gareth, Crosbie Emma J
Abstract excerpt
PURPOSE: Single-nucleotide variations (SNVs) (formerly single-nucleotide polymorphism [SNV]) influence genetic predisposition to endometrial cancer. We hypothesized that a polygenic risk score (PRS) comprising multiple SNVs may improve endometrial cancer risk prediction for targeted screening and prevention. METHODS: We developed PRSs from SNVs identified from a systematic review of published studies and...
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