%0 Journal Article
%A Stylianou, Cassie E
%A Wiggins, George A R
%A Lau, Vanessa L
%A Dennis, Joe
%A Shelling, Andrew N
%A Wilson, Michelle
%A Sykes, Peter
%A Amant, Frederic
%A Annibali, Daniela
%A De Wispelaere, Wout
%A Easton, Douglas F
%A Fasching, Peter A
%A Glubb, Dylan M
%A Goode, Ellen L
%A Lambrechts, Diether
%A Pharoah, Paul D P
%A Scott, Rodney J
%A Tham, Emma
%A Tomlinson, Ian
%A Bolla, Manjeet K
%A Couch, Fergus J
%A Czene, Kamila
%A Dörk, Thilo
%A Dunning, Alison M
%A Fletcher, Olivia
%A García-Closas, Montserrat
%A Hoppe, Reiner
%A Jernström, Helena
%A Kaaks, Rudolf
%A Michailidou, Kyriaki
%A Obi, Nadia
%A Southey, Melissa C
%A Stone, Jennifer
%A Wang, Qin
%A Spurdle, Amanda B
%A O'Mara, Tracy A
%A Pearson, John
%A Walker, Logan C
%T Germline copy number variants and endometrial cancer risk.
%J Human genetics
%V 143
%@ 0018-7348
%C Heidelberg
%I Springer
%M DKFZ-2024-02235
%P 1481–1498
%D 2024
%Z Volume 143, pages 1481–1498, (2024)
%X 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 < 0.01) with endometrial cancer risk. Pathway analysis of the candidate loci revealed an enrichment of genes involved in the 16p11.2 proximal deletion syndrome, driven by a large recurrent deletion (chr16:29,595,483-30,159,693) identified in 0.15
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39495297
%R 10.1007/s00439-024-02707-9
%U https://inrepo02.dkfz.de/record/294406