ArticleHuman molecular genetics2011
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.
Article in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 11 of them syntheses that pooled it.
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Who cites it
71 citing papers in PubMed, 11 syntheses or guidelines pooled it, 147 citations in OpenAlex.
- Testicular microlithiasis and male fertility: a dual perspective integrating imaging and physiological insights.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Pooled it
- Association Between BAK1 Gene rs210138 Polymorphisms and Testicular Germ Cell Tumors: A Systematic Review and Meta-Analysis.Frontiers in endocrinology · 2020Pooled it
- Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.Nature genetics · 2017Pooled it
- Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.Nature genetics · 2017Pooled it
- Pathway-based analysis of GWAs data identifies association of sex determination genes with susceptibility to testicular germ cell tumors.Human molecular genetics · 2014Pooled it
- Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.Human molecular genetics · 2013Pooled it
- Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.Nature genetics · 2013Pooled it
- Meta-analysis identifies four new loci associated with testicular germ cell tumor.Nature genetics · 2013Pooled it
- Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.Journal of the National Cancer Institute · 2012Pooled it
- TERT-CLPTM1L polymorphism rs401681 contributes to cancers risk: evidence from a meta-analysis based on 29 publications.PloS one · 2012Pooled it
- Overlapping genetic etiology of pediatric and adult germ cell tumors.Journal of the National Cancer Institute · 2026Article
- The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors.Andrology · 2026Article
- Driving precision medicine in testicular germ cell tumors: from preclinical models to clinical applications.Therapeutic advances in medical oncology · 2026Review
- Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.American journal of human genetics · 2025Article
- FGF-independent MEK1/2 signalling in the developing foetal testis is essential for male germline differentiation in mice.BMC biology · 2023Article
- Combined RNA/tissue profiling identifies novel Cancer/testis genes.Molecular oncology · 2021Article
- Identification of 22 susceptibility loci associated with testicular germ cell tumors.Nature communications · 2021Article
- Mycotoxins Affecting Animals, Foods, Humans, and Plants: Types, Occurrence, Toxicities, Action Mechanisms, Prevention, and Detoxification Strategies-A Revisit.Foods (Basel, Switzerland) · 2021Review
- Between a Rock and a Hard Place: An Epigenetic-Centric View of Testicular Germ Cell Tumors.Cancers · 2021Review
11 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
Abstract
Susceptibility to testicular germ cell tumors (TGCT) has a significant heritable component, and genome-wide association studies (GWASs) have identified association with variants in several genes, including KITLG, SPRY4, BAK1, TERT, DMRT1 and ATF7IP. In our GWAS, we genotyped 349 TGCT cases and 919 controls and replicated top hits in an independent set of 439 cases and 960 controls in an attempt to find novel TGCT susceptibility loci. We identified a second marker (rs7040024) in the doublesex and mab-3-related transcription factor 1 (DMRT1) gene that is independent of the previously described risk allele (rs755383) at this locus. In combined analysis that mutually conditions on both DMRT1 single nucleotide polymorphism markers, TGCT cases had elevated odds of carriage of the rs7040024 major A allele [per-allele odds ratio (OR) = 1.48, 95% confidence interval (CI) 1.23, 1.78; P = 2.52 × 10(-5)] compared with controls, while the association with rs755383 persisted (per allele OR = 1.26, 95% CI 1.08, 1.47, P = 0.0036). In similar analyses, the association of rs7040024 among men with seminomatous tumors did not differ from that among men with non-seminomatous tumors. In combination with KITLG, the strongest TGCT susceptibility locus found to date, men with TGCT had greatly elevated odds (OR = 14.1, 95% CI 5.12, 38.6; P = 2.98 × 10(-7)) of being double homozygotes for the risk (major) alleles at DMRT (rs7040024) and KITLG (rs4474514) when compared with men without TGCT. Our findings continue to corroborate that genes influencing male germ cell development and differentiation have emerged as the major players in inherited TGCT susceptibility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.