SynthesisCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2020
Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations.
Synthesis in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Genetic Analysis Implicates Dysregulation ofInternational journal of environmental research and public health · 2022Article
- Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.Human molecular genetics · 2022Article
- The Role of Artificial Intelligence in the Diagnosis and Prognosis of Renal Cell Tumors.Diagnostics (Basel, Switzerland) · 2021Review
- Article
- An Investigation of Post-radiation Gene Expression Profiles: A System Biology Study.Journal of lasers in medical sciences · 2020Article
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Authors and funding
12 authors.
Funding
Abstract
backgroundMuch of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches have been developed to increase the discovery of risk variants in genome-wide association studies (GWAS), including multi-locus testing through pathway analysis.
methodsWe conducted a pathway analysis using GWAS summary data from six previous scans (10,784 cases and 20,406 controls) and evaluated 3,678 pathways and gene sets drawn from the Molecular Signatures Database. To replicate findings, we analyzed GWAS summary data from the UK Biobank (903 cases and 451,361 controls) and the Genetic Epidemiology Research on Adult Health and Aging cohort (317 cases and 50,511 controls).
resultsWe identified 14 pathways/gene sets associated with RCC in both the discovery (
conclusionsOur pathway analysis implicates genetic variation within the PI3K/AKT pathway as a source of RCC heritability and identifies several promising novel susceptibility genes, including IMPACT: Our findings illustrate the value of pathway analysis as a complementary approach to analyzing GWAS data.
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