{"entity":{"id":"polygenic-risk-scores","kind":"technology","name":"Polygenic risk scores for cancer","aka":[],"tldr":"A score built from hundreds of common gene variants that says whether your inherited risk of a cancer is higher or lower than average, now being tested as a way to decide who is screened and how often.","summary":"Polygenic risk scores sum the small effects of hundreds to millions of common variants. The 313-variant breast cancer score (Mavaddat et al., 2019) stratifies women across a several-fold range of lifetime risk and is included in the CanRisk (BOADICEA) model used in UK clinics; prostate cancer scores identify men in the top decile of risk, and the BARCODE1 study (2025) offered MRI and biopsy to such men regardless of PSA and found a high yield of clinically significant cancer. Risk-based screening trials, WISDOM in the US (NCT02620852) and MyPeBS in Europe, are testing whether tailoring mammography by risk, including polygenic risk, is as safe as age-based screening, and the UK TRANSFORM prostate trial includes a genetic testing arm. The main limitations are poor transferability to people of non-European ancestry, modest discrimination compared with a pathogenic BRCA variant, and the absence so far of proof that acting on a score improves outcomes.","status":"emerging","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/Polygenic_score","links":[{"label":"Mavaddat et al., 313-SNP breast cancer PRS (AJHG 2019)","url":"https://doi.org/10.1016/j.ajhg.2018.11.002"},{"label":"ClinicalTrials.gov NCT02620852","url":"https://clinicaltrials.gov/study/NCT02620852"}],"tags":[],"related":["polygenic-risk-score"],"cancers":["breast-hr-positive","prostate","colorectal"],"sections":["early-detection","prevention","ai-computation"],"technologies":["germline-testing","mammography","prostate-screening-psa-mri"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["screening","germline-vs-somatic","polygenic-risk-score"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-mavaddat-am-j-hum-genet"],"journals":[],"dependsOn":[],"notes":[],"principle":"Genome-wide association study effect sizes are summed across an individual's genotyped variants, then combined with age, family history and other risk factors in an absolute-risk model.","strengths":["Cheap, once-in-a-lifetime genotyping","Refines who benefits from earlier or more intensive screening"],"limitations":["Ancestry bias in training data","Modest per-person discrimination","Clinical utility unproven"]},"route":"/technologies/polygenic-risk-scores/","neighbours":{"term":[{"id":"germline-vs-somatic","kind":"term","name":"Germline vs somatic mutations","route":"/terms/germline-vs-somatic/"},{"id":"polygenic-risk-score","kind":"term","name":"Polygenic risk score (PRS)","route":"/terms/polygenic-risk-score/"},{"id":"screening","kind":"term","name":"Screening","route":"/terms/screening/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"breast-hr-positive","kind":"cancer","name":"HR-positive / HER2-negative breast cancer","route":"/cancers/breast-hr-positive/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}],"section":[{"id":"ai-computation","kind":"section","name":"AI & Computation","route":"/fronts/ai-computation/"},{"id":"early-detection","kind":"section","name":"Early Detection & Screening","route":"/fronts/early-detection/"},{"id":"prevention","kind":"section","name":"Prevention & Risk","route":"/fronts/prevention/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"},{"id":"mammography","kind":"technology","name":"Mammography & tomosynthesis","route":"/technologies/mammography/"},{"id":"prostate-screening-psa-mri","kind":"technology","name":"PSA and MRI-first prostate cancer screening","route":"/technologies/prostate-screening-psa-mri/"}],"paper":[{"id":"paper-mavaddat-am-j-hum-genet","kind":"paper","name":"Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes","route":"/key-papers/paper-mavaddat-am-j-hum-genet/"}],"roadmap":[{"id":"prevention-roadmap","kind":"roadmap","name":"Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers","route":"/roadmaps/prevention-roadmap/"}],"trial":[{"id":"wisdom-trial","kind":"trial","name":"WISDOM (Women Informed to Screen Depending on Measures of Risk)","route":"/trials/wisdom-trial/"}]}}