ArticleCancer2019
Germline mutations of renal cancer predisposition genes and clinical relevance in Chinese patients with sporadic, early-onset disease.
Article in Cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 45 citations in OpenAlex.
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- Temporal trends, future projections, and burden of early-onset genitourinary cancers in Asia from 1990 to 2023: an analysis of the Global Burden of Disease Study 2023.Translational andrology and urology · 2026Article
- Insights from 2057 germline genetic tests in renal cell carcinoma patients support revisiting testing criteria.European journal of human genetics : EJHG · 2026Article
- PARP Inhibitors in Genitourinary Cancer: A New Paradigm Beyond Prostate Cancer.International journal of urology : official journal of the Japanese Urological Association · 2025Review
- Malignant mesothelioma with a novelOncology letters · 2025Article
- A Scoping Review of Population Diversity in the Common Genomic Aberrations of Clear Cell Renal Cell Carcinoma.Oncology · 2025Article
- Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.European urology open science · 2024Article
- Hereditary Renal Cancer Syndromes.Medical sciences (Basel, Switzerland) · 2024Review
- Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.European journal of human genetics : EJHG · 2023Article
- Inherited mutations in Chinese patients with upper tract urothelial carcinoma.Cell reports. Medicine · 2023Article
- Genomic profiles of renal cell carcinoma in a small Chinese cohort.Frontiers in oncology · 2023Article
- The prevalence and prognosis of next-generation therapeutic targets in metastatic castration-resistant prostate cancer.Molecular oncology · 2022Article
- Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.Human molecular genetics · 2022Article
- Stanniocalcin 1 promotes metastasis, lipid metabolism and cisplatin chemoresistance via the FOXC2/ITGB6 signaling axis in ovarian cancer.Journal of experimental & clinical cancer research : CR · 2022Article
- Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing.European urology oncology · 2021Article
- Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma.Frontiers in oncology · 2021Article
- Development and Validation of Prognostic Nomogram for Young Patients with Kidney Cancer.International journal of general medicine · 2021Article
- BRDT is a novel regulator of eIF4EBP1 in renal cell carcinoma.Oncology reports · 2020Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundAn inherited susceptibility to renal cancers is associated with multiple predisposing genes, but most screening tests are limited to patients with a family history. Next-generation sequencing (NGS)-based multigene panels provide an efficient and adaptable tool for investigating pathogenic germline mutations on a larger scale. This study investigated the frequency of pathogenic germline mutations in renal cancer predisposition genes in patients with sporadic, early-onset disease.
methodsAn NGS-based panel of 23 known and potential renal cancer predisposition genes was used to analyze germline mutations in 190 unrelated Chinese patients under the age of 45 years who presented with renal tumors. The detected variants were filtered for pathogenicity, and then their frequencies were calculated and correlated with clinical features. Germline variants of the fumarate hydratase (FH) and BRCA1-associated protein 1 (BAP1) genes were comprehensively analyzed because of their aggressive potential.
resultsIn total, 18 patients (9.5%) had germline mutations in 10 genes. Twelve of these 18 patients had alterations in renal cancer predisposition genes (6.3%), and 6 patients had mutations in potential predisposition genes such as BRCA1/2. Notably, pathogenic mutation carriers had a significant family history in second-degree relatives in comparison with those without pathogenic mutations (P < .001). Variants of unknown clinical significance in FH and BAP1 demonstrated evidence of additional somatic loss in tumors.
conclusionsIn patients with early-onset disease, a multigene panel identified a high pathogenic germline mutation rate in renal cancer predisposition genes. This study emphasizes the importance of screening patients with early-onset disease for mutations in cancer predisposition genes. Germline screening should be encouraged in early-onset patients to provide personalized medicine and improve patient outcomes.
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