SynthesisNature genetics2017
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
Synthesis in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 5 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.
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Who cites it
69 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.Cancer research · 2021Pooled it
- Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.Nature communications · 2020Pooled it
- Association Between BAK1 Gene rs210138 Polymorphisms and Testicular Germ Cell Tumors: A Systematic Review and Meta-Analysis.Frontiers in endocrinology · 2020Pooled it
- Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility.Human reproduction (Oxford, England) · 2018Pooled it
- Association BetweenCancer genomics & proteomicsPooled it
- The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors.Andrology · 2026Article
- From incidentaloma to actionable insight: a clinical-molecular-imaging framework for risk-stratified management of testicular microlithiasis.Frontiers in endocrinology · 2026Review
- Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.European urology open science · 2025Article
- Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring.Nature aging · 2024Review
- Further Association of GermlineJournal of clinical medicine · 2023Article
- Alternative splicing in lung influences COVID-19 severity and respiratory diseases.Nature communications · 2023Article
- Article
- Breaking the Mold: Epigenetics and Genomics Approaches Addressing Novel Treatments and Chemoresponse in TGCT Patients.International journal of molecular sciences · 2023Review
- Risk Factors for Testicular Cancer: Environment, Genes and Infections-Is It All?Medicina (Kaunas, Lithuania) · 2023Review
- Biomaterials for Testicular Bioengineering: How far have we come and where do we have to go?Frontiers in endocrinology · 2023Review
- Immune checkpoint inhibitors and Chimeric Antigen Receptor (CAR)-T cell therapy: Potential treatment options against Testicular Germ Cell Tumors.Frontiers in immunology · 2023Review
- Implementation of individualised polygenic risk score analysis: a test case of a family of four.BMC medical genomics · 2022Article
- A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors.Nature communications · 2022Article
- Predicted leukocyte telomere length and risk of germ cell tumours.British journal of cancer · 2022Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
9 more citing papers are in PubMed but not listed here.
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Authors and funding
33 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have transformed understanding of susceptibility to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis with previous GWAS and a replication series, totaling 7,319 TGCT cases and 23,082 controls. We identify 19 new TGCT risk loci, roughly doubling the number of known TGCT risk loci to 44. By performing in situ Hi-C in TGCT cells, we provide evidence for a network of physical interactions among all 44 TGCT risk SNPs and candidate causal genes. Our findings implicate widespread disruption of developmental transcriptional regulators as a basis of TGCT susceptibility, consistent with failed primordial germ cell differentiation as an initiating step in oncogenesis. Defective microtubule assembly and dysregulation of KIT-MAPK signaling also feature as recurrently disrupted pathways. Our findings support a polygenic model of risk and provide insight into the biological basis of TGCT.
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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 Socratic graph.