ArticleAmerican journal of human genetics2005
The Y deletion gr/gr and susceptibility to testicular germ cell tumor.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00342537 (Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Studies of Familial Testicular Germ Cell Tumors), which is not on this map. Cited by 94 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Studies of Familial Testicular Germ Cell Tumors
Who cites it
94 citing papers in PubMed, 6 syntheses or guidelines pooled it, 217 citations in OpenAlex.
- Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines.Andrology · 2026Guideline
- Meta-analysis of five genome-wide association studies identifies multiple new loci associated with 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
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.Human molecular genetics · 2013Pooled it
- The association risk of male subfertility and testicular cancer: a systematic review.PloS one · 2009Pooled it
- Trial
- Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.medRxiv : the preprint server for health sciences · 2026Article
- Y-chromosome alteration and its impact on cancer progression and metastasis.Cellular & molecular biology letters · 2025Review
- Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives.Cancers · 2024Review
- New insights on testicular cancer prevalence with novel diagnostic biomarkers and therapeutic approaches.Cancer reports (Hoboken, N.J.) · 2024Review
- Optimization of Multiplex-PCR Technique To Determine Azf Deletions in infertility Male Patients.International journal of general medicine · 2024Article
- High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.Scientific reports · 2023Article
- Characterizing the evolution and phenotypic impact of ampliconic Y chromosome regions.Nature communications · 2023Article
- Risk Factors for Testicular Cancer: Environment, Genes and Infections-Is It All?Medicina (Kaunas, Lithuania) · 2023Review
- Germline stem cells in human.Signal transduction and targeted therapy · 2022Review
- Y-microdeletions: a review of the genetic basis for this common cause of male infertility.Translational andrology and urology · 2021Review
- Y chromosome copy number variation and its effects on fertility and other health factors: a review.Translational andrology and urology · 2021Review
- Sequence Read Depth Analysis of a Monophyletic Cluster of Y Chromosomes Characterized by Structural Rearrangements in the AZFc Region Resulting in DYS448 Deletion and DYF387S1 Duplication.Frontiers in genetics · 2021Article
- Disease gene discovery in male infertility: past, present and future.Human genetics · 2021Review
34 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 20 institutions in 14 countries.
Funding
Abstract
Testicular germ cell tumor (TGCT) is the most common cancer in young men. Despite a considerable familial component to TGCT risk, no genetic change that confers increased risk has been substantiated to date. The human Y chromosome carries a number of genes specifically involved in male germ cell development, and deletion of the AZFc region at Yq11 is the most common known genetic cause of infertility. Recently, a 1.6-Mb deletion of the Y chromosome that removes part of the AZFc region--known as the "gr/gr" deletion--has been associated with infertility. In epidemiological studies, male infertility has shown an association with TGCT that is out of proportion with what can be explained by tumor effects. Thus, we hypothesized that the gr/gr deletion may be associated with TGCT. Using logistic modeling, we analyzed this deletion in a large series of TGCT cases with and without a family history of TGCT. The gr/gr deletion was present in 3.0% (13/431) of TGCT cases with a family history, 2% (28/1,376) of TGCT cases without a family history, and 1.3% (33/2,599) of unaffected males. Presence of the gr/gr deletion was associated with a twofold increased risk of TGCT (adjusted odds ratio [aOR] 2.1; 95% confidence interval [CI] 1.3-3.6; P = .005) and a threefold increased risk of TGCT among patients with a positive family history (aOR 3.2; 95% CI 1.5-6.7; P = .0027). The gr/gr deletion was more strongly associated with seminoma (aOR 3.0; 95% CI 1.6-5.4; P = .0004) than with nonseminoma TGCT (aOR 1.5; 95% CI 0.72-3.0; P = .29). These data indicate that the Y microdeletion gr/gr is a rare, low-penetrance allele that confers susceptibility to TGCT.
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Identifiers
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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.