ArticleCell reports. Medicine2023
Inherited mutations in Chinese patients with upper tract urothelial carcinoma.
Article in Cell reports. Medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 6 citations in OpenAlex.
- Review
- Germline Variants in Bladder and Upper Tract Urothelial Cancers: Prevalence and Clinical Context in a Large Testing Registry.European urology open science · 2026Article
- Somatic structural variants drive upper tract urothelial carcinoma muscle invasiveness via activation of TPX2 transcription.EBioMedicine · 2026Article
- Liquid biopsy-guided kidney-sparing management in upper tract urothelial carcinoma: from preoperative risk stratification to perioperative surveillance.Frontiers in oncology · 2026Review
- Exploratory analysis of the molecular and genomic landscape of upper tract urothelial carcinoma using long-read sequencing.BMC cancer · 2025Article
- Clinical analysis of percutaneous kidney-sparing surgery for upper tract urothelial carcinoma.BMC urology · 2025Article
- Genomic Landscape and Clinical Relevance in Chinese Patients With Upper Tract Urothelial Carcinoma.JCO precision oncology · 2025Article
- Global Research Trends and Frontiers in Upper Tract Urothelial Carcinoma: A Comprehensive Visualization and Bibliometric Analysis.Journal of multidisciplinary healthcare · 2025Article
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Upper tract urothelial carcinoma (UTUC) accounts for 10% of urothelial carcinomas (UCs) and has a substantial hereditary component. However, the majority of our knowledge of germline spectrum comes from bladder cancer (BCa) data in White populations. Here, we sequence 309 Chinese UTUC cases and identify 71 germline pathogenic/likely pathogenic (P/LP) mutations in 62 patients (20.1%). Compared with White cases, we observe disparities and similarities in inherited mutational profiles. Association analysis reveals that germline P/LP mutations in MSH2, BRCA2, BRCA1, and BRIP1 significantly increase UTUC risk in Chinese populations. Furthermore, germline P/LP mutation in homologous recombination genes indicates poor prognosis for non-metastatic UTUC. Finally, we perform paired sequencing and observe significant correlations between germline mutation patterns and tumor subtypes. This study highlights the importance of genetic testing in patients with UTUC and calls for germline data from various ethnicities to better understand this disease.
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