Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.

Mohammed Al-Jumaan,Hoyin Chu,Abdullah Alsulaiman,Sabrina Y Camp,Seunghun Han,Riaz Gillani,Yousef Al Marzooq,Fatmah Almulhim,Chittibabu Vatte,Areej Al Nemer,Afnan Almuhanna,Eliezer M Van Allen,Amein Al-Ali,Saud H AlDubayan

Genome medicine（2023）

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摘要

Overall, our study provides a framework to assess polygenic risk in an understudied population using lpWGS and identifies common variant risk as a factor independent of pathogenic variant carrier status for earlier age of onset of breast cancer among indigenous Arab breast cancer patients.

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关键词

Low-pass whole genome sequencing,Imputation,Polygenic risk score,Breast cancer,Arab population,Age of onset,Pathogenic variants

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