Variants Near DMRT1, TERT and ATF7IP Are Associated with Testicular Germ Cell Cancer

Overview

Journal Nat Genet

Specialty Genetics

Date 2010 Jun 15

PMID 20543847

Citations 188

Authors

Clare Turnbull

Elizabeth A Rapley

Sheila Seal

David Pernet

Anthony Renwick

Deborah Hughes

Michelle Ricketts

Rachel Linger

Jeremie Nsengimana

Panagiotis Deloukas

Robert A Huddart

D Timothy Bishop

Douglas F Easton

Michael R Stratton

Nazneen Rahman

Affiliations

Soon will be listed here.

Abstract

We conducted a genome-wide association study for testicular germ cell tumor, genotyping 298,782 SNPs in 979 affected individuals and 4,947 controls from the UK and replicating associations in a further 664 cases and 3,456 controls. We identified three new susceptibility loci, two of which include genes that are involved in telomere regulation. We identified two independent signals within the TERT-CLPTM1L locus on chromosome 5, which has previously been associated with multiple other cancers (rs4635969, OR=1.54, P=1.14x10(-23); rs2736100, OR=1.33, P=7.55x10(-15)). We also identified a locus on chromosome 12 (rs2900333, OR=1.27, P=6.16x10(-10)) that contains ATF7IP, a regulator of TERT expression. Finally, we identified a locus on chromosome 9 (rs755383, OR=1.37, P=1.12x10(-23)), containing the sex determination gene DMRT1, which has been linked to teratoma susceptibility in mice.

Citing Articles

Spinal Metastases in Non-Seminomatous Germ Cell Testicular Tumors: Prognosis and Integrated Therapeutic Approaches-A Systematic Review with an Institutional Case Illustration.

Scalia G, Ferini G, Shams Z, Graziano F, Ponzo G, Giurato E Curr Oncol. 2024; 31(12):7459-7475.

PMID: 39727674 PMC: 11674372. DOI: 10.3390/curroncol31120551.

Noncoding variation near UBE2E2 orchestrates cardiometabolic pathophenotypes through polygenic effectors.

Zhang Y, David N, Pesaresi T, Andrews R, Kumar G, Chen H JCI Insight. 2024; 10(2).

PMID: 39656538 PMC: 11790016. DOI: 10.1172/jci.insight.184140.

FGF-independent MEK1/2 signalling in the developing foetal testis is essential for male germline differentiation in mice.

Blucher R, Lim R, Jarred E, Ritchie M, Western P BMC Biol. 2023; 21(1):281.

PMID: 38053127 PMC: 10696798. DOI: 10.1186/s12915-023-01777-x.

Type 3 IP3 receptor: Its structure, functions, and related disease implications.

Wu L, Chen J Channels (Austin). 2023; 17(1):2267416.

PMID: 37818548 PMC: 10569359. DOI: 10.1080/19336950.2023.2267416.

DMRT1 regulates human germline commitment.

Irie N, Lee S, Lorenzi V, Xu H, Chen J, Inoue M Nat Cell Biol. 2023; 25(10):1439-1452.

PMID: 37709822 PMC: 10567552. DOI: 10.1038/s41556-023-01224-7.

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