ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- 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
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers.medRxiv : the preprint server for health sciences · 2026Article
- Healthy lifestyles, screening, and breast cancer mortality in women with different risk of disease.The oncologist · 2025Article
- MuTATE: an interpretable multi-endpoint machine learning framework for automated molecular subtyping in cancer.npj health systems · 2025Article
- Review
- Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.Journal of the National Cancer Institute · 2024Article
- Addition of polygenic risk score to a risk calculator for prediction of breast cancer in US Black women.Breast cancer research : BCR · 2024Article
- Colorectal Cancer Polygenic Risk Score Is Associated With Screening Colonoscopy Findings but Not Follow-Up Outcomes.Gastro hep advances · 2024Article
- Do Polygenic Risk Scores Add to Clinical Data in Predicting Pancreatic Cancer? A Scoping Review.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Intersecting Pathways in Bioinformatics and Translational Informatics: A One Health Perspective on Key Contributions and Future Directions.Yearbook of medical informatics · 2023Article
- Ethnic disparities in fracture risk assessment using polygenic scores.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2023Observational
- Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach.Cancer research communications · 2023Article
- The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.Journal of personalized medicine · 2022Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
purposeGenome-wide association studies have identified hundreds of single nucleotide variations (formerly single nucleotide polymorphisms) associated with several cancers, but the predictive ability of polygenic risk scores (PRSs) is unclear, especially among non-Whites.
methodsPRSs were derived from genome-wide significant single-nucleotide variations for 15 cancers in 20,079 individuals in an academic biobank. We evaluated the improvement in discriminatory accuracy by including cancer-specific PRS in patients of genetically-determined African and European ancestry.
resultsAmong the individuals of European genetic ancestry, PRSs for breast, colon, melanoma, and prostate were significantly associated with their respective cancers. Among the individuals of African genetic ancestry, PRSs for breast, colon, prostate, and thyroid were significantly associated with their respective cancers. The area under the curve of the model consisting of age, sex, and principal components was 0.621 to 0.710, and it increased by 1% to 4% with the inclusion of PRS in individuals of European genetic ancestry. In individuals of African genetic ancestry, area under the curve was overall higher in the model without the PRS (0.723-0.810) but increased by <1% with the inclusion of PRS for most cancers.
conclusionPRS moderately increased the ability to discriminate the cancer status in individuals of European but not African ancestry. Further large-scale studies are needed to identify ancestry-specific genetic factors in non-White populations to incorporate PRS into cancer risk assessment.
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