ArticleAmerican journal of human genetics2011
Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The Maudsley environmental risk score for psychosis.Psychological medicine · 2020Pooled it
- Cumulative evidence for relationships between multiple variants of HNF1B and the risk of prostate and endometrial cancers.BMC medical genetics · 2018Pooled it
- LT-FGRS: a unifying R-package for the estimation of family-based genetic liabilities at population-scale.bioRxiv : the preprint server for biology · 2026Article
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Statistical construction of calibrated prediction intervals for polygenic score-based phenotype prediction.Nature genetics · 2025Article
- Liability threshold model-based disease risk prediction based on electronic health record phenotypes.Nature genetics · 2025Article
- Article
- Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression.American journal of human genetics · 2024Article
- Article
- Exploring the role of underrepresented populations in polygenic risk scores for neurodegenerative disease risk prediction.Frontiers in neuroscience · 2024Article
- mtPGS: Leverage multiple correlated traits for accurate polygenic score construction.American journal of human genetics · 2023Article
- CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Bayesian linear mixed model with multiple random effects for family-based genetic studies.Frontiers in genetics · 2023Article
- Exploiting family history in aggregation unit-based genetic association tests.European journal of human genetics : EJHG · 2022Article
- Incorporating family history of disease improves polygenic risk scores in diverse populations.Cell genomics · 2022Article
- Capturing additional genetic risk from family history for improved polygenic risk prediction.Communications biology · 2022Article
- Polygenic risk for prostate cancer: Decreasing relative risk with age but little impact on absolute risk.American journal of human genetics · 2022Article
- Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology.Frontiers in oncology · 2022Article
- Polygenic risk scores: the future of cancer risk prediction, screening, and precision prevention.Medical review (2021) · 2021Review
- Genetic prediction of complex traits with polygenic scores: a statistical review.Trends in genetics : TIG · 2021Review
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relatives can also be incorporated. We allow risk prediction given the current age and follow-up period and consider competing risks of mortality. The framework allows easy extension to any family size and structure. In addition, the predicted risk at any percentile and the risk distribution graphs can be computed analytically. We applied the method to risk prediction for breast and prostate cancers by using known susceptibility loci from genome-wide association studies. For breast cancer, in the population the 10-year risk at age 50 ranged from 1.1% at the 5th percentile to 4.7% at the 95th percentile. If we consider the average 10-year risk at age 50 (2.39%) as the threshold for screening, the screening age ranged from 62 at the 20th percentile to 38 at the 95th percentile (and some never reach the threshold). For women with one affected first-degree relative, the 10-year risks ranged from 2.6% (at the 5th percentile) to 8.1% (at the 95th percentile). For prostate cancer, the corresponding 10-year risks at age 60 varied from 1.8% to 14.9% in the population and from 4.2% to 23.2% in those with an affected first-degree relative. We suggest that for some diseases genetic testing that incorporates family history can stratify people into diverse risk categories and might be useful in targeted prevention and screening.
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