Stylianou CE., Wiggins GAR., Lau VL., Dennis J., Shelling AN., Wilson M., Sykes P., Amant F., Annibali D., De Wispelaere W., Easton DF., Fasching PA., Glubb DM., Goode EL., Lambrechts D., Pharoah PDP., Scott RJ., Tham E., Tomlinson I., Bolla MK., Couch FJ., Czene K., Dörk T., Dunning AM., Fletcher O., García-Closas M., Hoppe R., ABCTB Investigators None., Jernström H., Kaaks R., Michailidou K., Obi N., Southey MC., Stone J., Wang Q., Spurdle AB., O'Mara TA., Pearson J., Walker LC.

Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with disease. We identified a 1.22-fold greater number of CNVs in DNA samples from cases compared to DNA samples from controls (p = 4.4 × 10-63). Under three models of putative CNV impact (deletion, duplication, and loss of function), genome-wide association studies identified 141 candidate gene loci associated (p

Germline copy number variants and endometrial cancer risk.

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