@article{5462ce0141214592a44157ac7db97056,
title = "Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23",
abstract = "Genome-wide association studies (GWASs) have identified multiple common genetic variants associated with an increased risk of testicular germ cell tumors (TGCTs). A previous GWAS reported a possible TGCT susceptibility locus on chromosome 1q23 in the UCK2 gene, but failed to reach genome-wide significance following replication. We interrogated this region by conducting a meta-analysis of two independent GWASs including a total of 940 TGCT cases and 1559 controls for 122 single-nucleotide polymorphisms (SNPs) on chromosome 1q23 and followed up the most significant SNPs in an additional 2202 TGCT cases and 2386 controls from four case-control studies. We observed genome-wide significant associations for several UCK2 markers, the most significant of which was for rs3790665 (PCombined = 6.0 x 10-9). Additional support is provided from an independent familial study of TGCT where a significant over-transmission for rs3790665 with TGCT risk was observed (PFBAT = 2.3 x 10-3). Here, we provide substantial evidence for the association between UCK2 genetic variation and TGCT risk.",
author = "Schumacher, {Fredrick R.} and Zhaoming Wang and Skotheim, {Rolf I.} and Roelof Koster and Chung, {Charles C.} and Hildebrandt, {Michelle A.T.} and Kratz, {Christian P.} and Bakken, {Anne C.} and {Timothy Bishop}, D. and Cook, {Michael B.} and {Loren Erickson}, R. and Foss{\aa}, {Sophie D.} and Greene, {Mark H.} and Jacobs, {Kevin B.} and Kanetsky, {Peter A.} and Kolonel, {Laurence N.} and Loud, {Jennifer T.} and Korde, {Larissa A.} and {Le Marchand}, Loic and Lewinger, {Juan Pablo} and Lothe, {Ragnhild A.} and Pike, {Malcolm C.} and Nazneen Rahman and Rubertone, {Mark V.} and Schwartz, {Stephen M.} and Siegmund, {Kimberly D.} and Skinner, {Eila C.} and Clare Turnbull and {Van Den Berg}, {David J.} and Xifeng Wu and Meredith Yeager and Nathanson, {Katherine L.} and Chanock, {Stephen J.} and Cortessis, {Victoria K.} and McGlynn, {Katherine A.}",
note = "Funding Information: A portion of this work was supported by the Intramural Research Program of the National Cancer Institute and by support services contract HHSN261200655004C with Westat, Inc. Support was also provided as follows: USC GWAS controls were supported by the Multiethnic Cohort Study (NCI U01-CA98758). USC GWAS testicular cases and Familial Study were supported by the California Cancer Research Program (99-00505V-10260, 03-00174VRS-30021) and National Cancer Institute (1R01 CA102042-01A1) grants to V.K.C. and a Whittier Foundation award to the Norris Comprehensive Cancer Center. Replication effort for the TestPAC study was supported by the Abramson Cancer Center at the University of Pennsylvania and National Institutes of Health grant R01CA114478 to P.A.K. and K.L.N. Replication effort for the ATLAS study was supported by the National Institutes of Health grant R01CA085914 to S.M.S. MD Anderson: Center for Translational and Public Health Genomics of the Duncan Family Institute for Cancer Prevention and Risk Assessment and by MD Anderson Senior Research Trust Fellowship to X.W. The UK Genetics of Testicular Cancer Study was supported by Movember and Cancer Research UK.",
year = "2013",
month = jul,
doi = "10.1093/hmg/ddt109",
language = "English (US)",
volume = "22",
pages = "2748--2753",
journal = "Human molecular genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "13",
}