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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.
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.
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.
Query for this technology: (TITLE:"Polygenic risk scores for cancer" OR ABSTRACT:"Polygenic risk scores for cancer") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about Polygenic risk scores for cancer, not a curated reading list.
Shares Polygenic risk score (PRS), Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers, Germline (hereditary) testing, HR-positive / HER2-negative breast cancer.
Shares Germline vs somatic mutations, Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers, Germline (hereditary) testing, HR-positive / HER2-negative breast cancer.
Shares Germline vs somatic mutations, Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers, Germline (hereditary) testing.
Shares Germline vs somatic mutations, Cancer prevention roadmap: tobacco control and vaccines → biomarker-guided chemoprevention → interception in carriers, Germline (hereditary) testing, Prostate cancer.
Shares Screening, Mammography & tomosynthesis, HR-positive / HER2-negative breast cancer.
Shares Polygenic risk score (PRS), Screening, Germline (hereditary) testing, Prostate cancer.
Shares Polygenic risk score (PRS), PSA and MRI-first prostate cancer screening, Screening, Prostate cancer.
Shares Germline (hereditary) testing, HR-positive / HER2-negative breast cancer, Prostate cancer, Colorectal cancer.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
The NCI's Breast Cancer Risk Assessment (Gail) model as an R package.
The NCI's tool for building and validating absolute risk models, used for breast and other cancer risk prediction.