ArticleNature communications2016
Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights.European urology · 2019Pooled it
- Essential genetic mutations impair DNA damage repair and modulate tumor immune microenvironment in ccRCC.MedScience · 2026Review
- Distinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors.Scientific reports · 2026Article
- CX3CL1 promotes cell sensitivity to ferroptosis and is associated with the tumor microenvironment in clear cell renal cell carcinoma.BMC cancer · 2022Article
- Evaluating statistical approaches to define clonal origin of tumours using bulk DNA sequencing: context is everything.Genome biology · 2022Review
- Clear cell renal cell carcinoma ontogeny and mechanisms of lethality.Nature reviews. Nephrology · 2021Review
- Molecular and Metabolic Subtypes in Sporadic and Inherited Clear Cell Renal Cell Carcinoma.Genes · 2021Review
- The Vista of Application of Specific Anaphylaxis Accurate Diagnosis Based on DNA Single-Nucleotide Methylation Sites.Contrast media & molecular imaging · 2021Article
- Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.Medicines (Basel, Switzerland) · 2020Review
- Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.Molecular genetics & genomic medicine · 2019Article
- Computational approaches for discovery of mutational signatures in cancer.Briefings in bioinformatics · 2019Review
- The origin, evolution and route to metastasis of clear cell RCC.Nature reviews. Nephrology · 2018Article
- Timing the Landmark Events in the Evolution of Clear Cell Renal Cell Cancer: TRACERx Renal.Cell · 2018Article
- Renal Cell Carcinoma in von Hippel-Lindau Disease-From Tumor Genetics to Novel Therapeutic Strategies.Frontiers in pediatrics · 2018Review
- The role of tumour heterogeneity and clonal cooperativity in metastasis, immune evasion and clinical outcome.BMC medicine · 2017Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Cancer development is presumed to be an evolutionary process that is influenced by genetic background and environment. In laboratory animals, genetics and environment are variables that can largely be held constant. In humans, it is possible to compare independent tumours that have developed in the same patient, effectively constraining genetic and environmental variation and leaving only stochastic processes. Patients affected with von Hippel-Lindau disease are at risk of developing multiple independent clear cell renal carcinomas. Here we perform whole-genome sequencing on 40 tumours from six von Hippel-Lindau patients. We confirm that the tumours are clonally independent, having distinct somatic single-nucleotide variants. Although tumours from the same patient show many differences, within-patient patterns are discernible. Single-nucleotide substitution type rates are significantly different between patients and show biases in trinucleotide mutation context. We also observe biases in chromosome copy number aberrations. These results show that genetic background and/or environment can influence the types of mutations that occur.
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Registered trials
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