ArticleJNCI cancer spectrum2020
Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
Article in JNCI cancer spectrum, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 3 of them syntheses that pooled it.
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Who cites it
81 citing papers in PubMed, 3 syntheses or guidelines pooled it, 140 citations in OpenAlex.
- Risk prediction for lung cancer screening: a systematic review and meta-regression.European respiratory review : an official journal of the European Respiratory Society · 2026Pooled it
- The current state of polygenic scores for the development of lung cancer: a systematic review and validation in UK Biobank.British journal of cancer · 2026Pooled it
- Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023Guideline
- Using Polygenic Risk Scores to Refine Risk and Outcomes in High-grade Serous Ovarian Cancer in Australia.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Artificial Intelligence and Genomic Data Analysis: New Frontiers in Precision Medicine.International journal of molecular sciences · 2026Review
- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Oxidative balance score, genetic susceptibility, and the risk of pancreatic cancer: a population-based cohort study.Nutrition journal · 2026Article
- Pan-cancer polygenic risk score associates with cancer susceptibility following kidney transplantation.JCI insight · 2026Article
- Comparison of Results from the BARCODE1 Study and Contemporary Prostate Cancer Screening Trials.European urology oncology · 2026Article
- Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non-Urological Complications.The Prostate · 2026Article
- Polygenic scores for risk of pancreatic ductal adenocarcinoma: evaluation of novel and published models.NPJ precision oncology · 2026Article
- Effect of a polygenic risk score in patients with late-onset, early-onset, familial, or hereditary colorectal cancer.JNCI cancer spectrum · 2026Article
- Enhancing polygenic risk prediction by modeling quantile-specific genetic effects.Scientific reports · 2026Article
- Clinical translation of polygenic scores for prostate cancer screening.Nature reviews. Urology · 2026Review
- Development and Validation of a Genome-Wide Association Study Based Polygenic Risk Score for Prostate Cancer in an Asian Population.The world journal of men's health · 2026Article
- The gene expression landscape of disease genes.Genome biology · 2026Article
- Taxonomy-free fecal microbiome profiles enable robust prediction of immunotherapy response and toxicity in melanoma.bioRxiv : the preprint server for biology · 2025Article
- Germline genetic scores associated with cancer gene expression and immune responses across multiple cancer types.Communications medicine · 2025Article
- A compact encoding of the genome suitable for machine learning prediction of traits and genetic risk scores.BioData mining · 2025Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGenome-wide association studies have identified common genetic risk variants in many loci associated with multiple cancers. We sought to systematically evaluate the utility of these risk variants in identifying high-risk individuals for eight common cancers.
methodsWe constructed polygenic risk scores (PRS) using genome-wide association studies-identified risk variants for each cancer. Using data from 400 812 participants of European descent in a population-based cohort study, UK Biobank, we estimated hazard ratios associated with PRS using Cox proportional hazard models and evaluated the performance of the PRS in cancer risk prediction and their ability to identify individuals at more than a twofold elevated risk, a risk level comparable to a moderate-penetrance mutation in known cancer predisposition genes.
resultsDuring a median follow-up of 5.8 years, 14 584 incident case patients of cancers were identified (ranging from 358 epithelial ovarian cancer case patients to 4430 prostate cancer case patients). Compared with those at an average risk, individuals among the highest 5% of the PRS had a two- to threefold elevated risk for cancer of the prostate, breast, pancreas, colorectal, or ovary, and an approximately 1.5-fold elevated risk of cancer of the lung, bladder, or kidney. The areas under the curve ranged from 0.567 to 0.662. Using PRS, 40.4% of the study participants can be classified as having more than a twofold elevated risk for at least one site-specific cancer.
conclusionsA large proportion of the general population can be identified at an elevated cancer risk by PRS, supporting the potential clinical utility of PRS for personalized cancer risk prediction.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.