ArticleGastroenterology2015
A model to determine colorectal cancer risk using common genetic susceptibility loci.
Article in Gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 7 of them syntheses that pooled it.
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Who cites it
79 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.PloS one · 2025Pooled it
- Risk assessment for colorectal cancer via polygenic risk score and lifestyle exposure: a large-scale association study of East Asian and European populations.Genome medicine · 2023Pooled it
- Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians.International journal of cancer · 2022Pooled it
- Pooled it
- Risk Prediction Models for Colorectal Cancer Incorporating Common Genetic Variants: A Systematic Review.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Pooled it
- Discovery of common and rare genetic risk variants for colorectal cancer.Nature genetics · 2019Pooled it
- Risk Scores for Predicting Advanced Colorectal Neoplasia in the Average-risk Population: A Systematic Review and Meta-analysis.The American journal of gastroenterology · 2018Pooled it
- Polygenic risk scores in cancer.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Effect of a polygenic risk score in patients with late-onset, early-onset, familial, or hereditary colorectal cancer.JNCI cancer spectrum · 2026Article
- AI-driven integration of genomic and exposome data for cancer risk: the combined risk score (CRS).Human genomics · 2026Review
- Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions.AJPM focus · 2025Article
- Colorectal Cancer Polygenic Risk Score Is Associated With Screening Colonoscopy Findings but Not Follow-Up Outcomes.Gastro hep advances · 2024Article
- Review
- Colorectal Cancer Risk Assessment and Precision Approaches to Screening: Brave New World or Worlds Apart?Gastroenterology · 2023Review
- Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.BMC medical genomics · 2023Article
- Endoscopic Screening and Risk of Colorectal Cancer according to Type 2 Diabetes Status.Cancer prevention research (Philadelphia, Pa.) · 2022Article
- Performance of the Use of Genetic Information to Assess the Risk of Colorectal Cancer in the Basque Population.Cancers · 2022Article
- Improving the computation efficiency of polygenic risk score modeling: faster in Julia.Life science alliance · 2022Article
- Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
19 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors.
Funding
Abstract
BACKGROUND &
aimsRisk for colorectal cancer (CRC) can be greatly reduced through screening. To aid in the development of screening strategies, we refined models designed to determine risk of CRC by incorporating information from common genetic susceptibility loci.
methodsBy using data collected from more than 12,000 participants in 6 studies performed from 1990 through 2011 in the United States and Germany, we developed risk determination models based on sex, age, family history, genetic risk score (number of risk alleles carried at 27 validated common CRC susceptibility loci), and history of endoscopic examinations. The model was validated using data collected from approximately 1800 participants in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, conducted from 1993 through 2001 in the United States.
resultsWe identified a CRC genetic risk score that independently predicted which patients in the training set would develop CRC. Compared with determination of risk based only on family history, adding the genetic risk score increased the discriminatory accuracy from 0.51 to 0.59 (P = .0028) for men and from 0.52 to 0.56 (P = .14) for women. We calculated age- and sex-specific 10-year CRC absolute risk estimates based on the number of risk alleles, family history, and history of endoscopic examinations. A model that included a genetic risk score better determined the recommended starting age for screening in subjects with and without family histories of CRC. The starting age for high-risk men (family history of CRC and genetic risk score, 90%) was 42 years, and for low-risk men (no family history of CRC and genetic risk score, 10%) was 52 years. For men with no family history and a high genetic risk score (90%), the starting age would be 47 years; this is an intermediate value that is 5 years earlier than it would be for men with a genetic risk score of 10%. Similar trends were observed in women.
conclusionsBy incorporating information on CRC risk alleles, we created a model to determine the risk for CRC more accurately. This model might be used to develop screening and prevention strategies.
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