ArticleScientific reports2020
Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Burden of rare genetic variants in genes associated with cancer among Malawian cervical cancer patients.African journal of laboratory medicine · 2026Article
- Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.Cancers · 2025Article
- Drug resistance and tumor heterogeneity: cells and ensembles.Biophysical reviews · 2025Review
- Molecular principles underlying aggressive cancers.Signal transduction and targeted therapy · 2025Review
- Adaptive Significance of Non-coding RNAs: Insights from Cancer Biology.Molecular biology and evolution · 2025Review
- Discovering predisposing genes for hereditary breast cancer using deep learning.Briefings in bioinformatics · 2024Article
- Scaled Process Priors for Bayesian Nonparametric Estimation of the Unseen Genetic Variation.Journal of the American Statistical Association · 2024Article
- Rare oncology therapeutics: review of clinical pharmacology package of drug approvals (2019-2023) by US FDA, best practices and recommendations.Journal of pharmacokinetics and pharmacodynamics · 2023Review
- Germline landscape ofFrontiers in oncology · 2023Article
- Genetic association studies of alterations in protein function expose recessive effects on cancer predisposition.Scientific reports · 2021Article
- Zebrafish Cancer Predisposition Models.Frontiers in cell and developmental biology · 2021Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
It is estimated that up to 10% of cancer incidents are attributed to inherited genetic alterations. Despite extensive research, there are still gaps in our understanding of genetic predisposition to cancer. It was theorized that ultra-rare variants partially account for the missing heritable component. We harness the UK BioBank dataset of ~ 500,000 individuals, 14% of which were diagnosed with cancer, to detect ultra-rare, possibly high-penetrance cancer predisposition variants. We report on 115 cancer-exclusive ultra-rare variations and nominate 26 variants with additional independent evidence as cancer predisposition variants. We conclude that population cohorts are valuable source for expanding the collection of novel cancer predisposition genes.
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Registered trials
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