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000294406 1001_ $$aStylianou, Cassie E$$b0
000294406 245__ $$aGermline copy number variants and endometrial cancer risk.
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000294406 500__ $$aVolume 143, pages 1481–1498, (2024)
000294406 520__ $$aKnown risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with disease. We identified a 1.22-fold greater number of CNVs in DNA samples from cases compared to DNA samples from controls (p = 4.4 × 10-63). Under three models of putative CNV impact (deletion, duplication, and loss of function), genome-wide association studies identified 141 candidate gene loci associated (p < 0.01) with endometrial cancer risk. Pathway analysis of the candidate loci revealed an enrichment of genes involved in the 16p11.2 proximal deletion syndrome, driven by a large recurrent deletion (chr16:29,595,483-30,159,693) identified in 0.15% of endometrial cancer cases and 0.02% of control participants. Together, these data provide evidence that rare copy number variants have a role in endometrial cancer susceptibility and that the proximal 16p11.2 BP4-BP5 region contains 25 candidate risk gene(s) that warrant further analysis to better understand their role in human disease.
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000294406 7001_ $$aWiggins, George A R$$b1
000294406 7001_ $$aLau, Vanessa L$$b2
000294406 7001_ $$aDennis, Joe$$b3
000294406 7001_ $$aShelling, Andrew N$$b4
000294406 7001_ $$aWilson, Michelle$$b5
000294406 7001_ $$aSykes, Peter$$b6
000294406 7001_ $$aAmant, Frederic$$b7
000294406 7001_ $$aAnnibali, Daniela$$b8
000294406 7001_ $$aDe Wispelaere, Wout$$b9
000294406 7001_ $$aEaston, Douglas F$$b10
000294406 7001_ $$aFasching, Peter A$$b11
000294406 7001_ $$aGlubb, Dylan M$$b12
000294406 7001_ $$aGoode, Ellen L$$b13
000294406 7001_ $$aLambrechts, Diether$$b14
000294406 7001_ $$aPharoah, Paul D P$$b15
000294406 7001_ $$aScott, Rodney J$$b16
000294406 7001_ $$aTham, Emma$$b17
000294406 7001_ $$aTomlinson, Ian$$b18
000294406 7001_ $$aBolla, Manjeet K$$b19
000294406 7001_ $$aCouch, Fergus J$$b20
000294406 7001_ $$aCzene, Kamila$$b21
000294406 7001_ $$aDörk, Thilo$$b22
000294406 7001_ $$aDunning, Alison M$$b23
000294406 7001_ $$aFletcher, Olivia$$b24
000294406 7001_ $$aGarcía-Closas, Montserrat$$b25
000294406 7001_ $$aHoppe, Reiner$$b26
000294406 7001_ $$aInvestigators, ABCTB$$b27$$eCollaboration Author
000294406 7001_ $$aJernström, Helena$$b28
000294406 7001_ $$0P:(DE-He78)4b2dc91c9d1ac33a1c0e0777d0c1697a$$aKaaks, Rudolf$$b29$$udkfz
000294406 7001_ $$aMichailidou, Kyriaki$$b30
000294406 7001_ $$aObi, Nadia$$b31
000294406 7001_ $$aSouthey, Melissa C$$b32
000294406 7001_ $$aStone, Jennifer$$b33
000294406 7001_ $$aWang, Qin$$b34
000294406 7001_ $$aSpurdle, Amanda B$$b35
000294406 7001_ $$aO'Mara, Tracy A$$b36
000294406 7001_ $$aPearson, John$$b37
000294406 7001_ $$aWalker, Logan C$$b38
000294406 7001_ $$aClarke, Christine$$b39$$eContributor
000294406 7001_ $$aMarsh, Deborah$$b40$$eContributor
000294406 7001_ $$aScott, Rodney$$b41$$eContributor
000294406 7001_ $$aBaxter, Robert$$b42$$eContributor
000294406 7001_ $$aYip, Desmond$$b43$$eContributor
000294406 7001_ $$aCarpenter, Jane$$b44$$eContributor
000294406 7001_ $$aDavis, Alison$$b45$$eContributor
000294406 7001_ $$aPathmanathan, Nirmala$$b46$$eContributor
000294406 7001_ $$aSimpson, Peter$$b47$$eContributor
000294406 7001_ $$aDinny Graham, J.$$b48$$eContributor
000294406 7001_ $$aSachchithananthan, Mythily$$b49$$eContributor
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