ArticleEuropean urology2024
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
Article in European urology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Family-Based Study RevealsInternational journal of molecular sciences · 2026Article
- The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors.Andrology · 2026Article
- Molecular pathways and immune microenvironment regulation in stem cell therapy for thin endometrium: a comprehensive narrative review.Frontiers in immunology · 2026Review
- From incidentaloma to actionable insight: a clinical-molecular-imaging framework for risk-stratified management of testicular microlithiasis.Frontiers in endocrinology · 2026Review
- Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.American journal of human genetics · 2025Article
- 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
- Germline Pathogenic Variants Identified in Patients With Genitourinary Malignancies Undergoing Universal Testing: A Multisite Single-Institution Prospective Study.The Journal of urology · 2024Article
- Time to diversify: germline exome sequencing for men with testicular germ cell tumour.Translational andrology and urology · 2024Article
- An update on the genetic predisposition of testicular germ cell tumors.Translational andrology and urology · 2024Article
- Further Association of GermlineJournal of clinical medicine · 2023Article
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21 authors at 8 institutions in 1 country.
Funding
Abstract
backgroundTesticular germ cell tumor (TGCT) is the most common cancer among young White men. TGCT is highly heritable, although there are no known high-penetrance predisposition genes. CHEK2 is associated with moderate TGCT risk.
objectiveTo identify coding genomic variants associated with predisposition to TGCT. DESIGN, SETTING, AND
participantsThe study involved 293 men with familial or bilateral (high risk; HR)-TGCT representing 228 unique families and 3157 cancer-free controls. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: We carried out exome sequencing and gene burden analysis to identify associations with TGCT risk. RESULTS AND LIMITATIONS: Gene burden association identified several genes, including loss-of-function variants of NIN and QRSL1. We identified no statistically significant association with the sex- and germ-cell development pathways (hypergeometric overlap test: p = 0.65 for truncating variants, p = 0.47 for all variants) or evidence of associations with the regions previously identified via genome-wide association studies (GWAS). When considering all significant coding variants together with genes associated with TGCT on GWAS, there were associations with three major pathways: mitosis/cell cycle (Gene Ontology identity GO:1903047: observed/expected variant ratio [O/E] 6.17, false discovery rate [FDR] 1.53 × 10
conclusionsTo the best of our knowledge, this study is the largest to date on men with HR-TGCT. As in previous studies, we identified associations with variants for several genes, suggesting multigenic heritability. We identified associations with co-translational protein targeting, and chromosomal segregation and sex determination, identified via GWAS. Our results suggest potentially druggable targets for TGCT prevention or treatment. PATIENT SUMMARY: We searched for gene variations that increase the risk of testicular cancer and found numerous new specific variants that contribute to this risk. Our results support the idea that many gene variants inherited together contribute to the risk of testicular cancer.
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