ArticleNature communications2020
Common germline-somatic variant interactions in advanced urothelial cancer.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 41 citations in OpenAlex.
- Effect of Cisplatin and Gemcitabine With or Without Berzosertib in Patients With Advanced Urothelial Carcinoma: A Phase 2 Randomized Clinical Trial.JAMA oncology · 2021Trial
- Angiotensin Converting Enzyme (ACE) insertion/deletion (rs1799752) gene polymorphism and bladder cancer aggressiveness in Egyptian patients: A pilot case-control study.Molecular biology reports · 2026Article
- Patient-derived organoids across cancers reveal conserved tumor heterogeneity and actionable therapeutic vulnerabilities.Science advances · 2026Article
- Simulation and empirical evaluation of biologically-informed neural network performance.Machine learning with applications · 2026Article
- Simulation and empirical evaluation of biologically-informed neural network performance.bioRxiv : the preprint server for biology · 2025Article
- Germline whole-exome sequencing revealsJournal for immunotherapy of cancer · 2025Article
- Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.Scientific reports · 2025Article
- Machine learning unravels the mysteries of glioma typing and treatment.Biochemistry and biophysics reports · 2025Article
- The genomic and transcriptomic landscape of metastastic urothelial cancer.Nature communications · 2024Article
- Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.Nature communications · 2024Article
- Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing.Molecular oncology · 2024Article
- Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.Cell discovery · 2023Article
- Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.Molecular oncology · 2023Article
- Global trends in the epidemiology of bladder cancer: challenges for public health and clinical practice.Nature reviews. Clinical oncology · 2023Review
- The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.Brain : a journal of neurology · 2023Article
- Construction and experimental validation of a signature for predicting prognosis and immune infiltration analysis of glioma based on disulfidptosis-related lncRNAs.Frontiers in immunology · 2023Article
- Molecular Basis of Tumorigenesis of Bladder Cancer and Emerging Concepts in Developing Therapeutic Targets.Bladder cancer (Amsterdam, Netherlands) · 2023Review
- Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Polyploidy as an Adaptation against Loss of Heterozygosity in Cancer.International journal of molecular sciences · 2022Article
- New Drug Development and Clinical Trial Design by Applying Genomic Information Management.Pharmaceutics · 2022Review
Corrections and comments
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Authors and funding
21 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prevalence and biological consequences of deleterious germline variants in urothelial cancer (UC) are not fully characterized. We performed whole-exome sequencing (WES) of germline DNA and 157 primary and metastatic tumors from 80 UC patients. We developed a computational framework for identifying putative deleterious germline variants (pDGVs) from WES data. Here, we show that UC patients harbor a high prevalence of pDGVs that truncate tumor suppressor proteins. Deepening somatic loss of heterozygosity in serial tumor samples is observed, suggesting a critical role for these pDGVs in tumor progression. Significant intra-patient heterogeneity in germline-somatic variant interactions results in divergent biological pathway alterations between primary and metastatic tumors. Our results characterize the spectrum of germline variants in UC and highlight their roles in shaping the natural history of the disease. These findings could have broad clinical implications for cancer patients.
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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.