Polygenic risk scores for cancer
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.
Overview
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.
How it works
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.
- Cheap, once-in-a-lifetime genotyping
- Refines who benefits from earlier or more intensive screening
- Ancestry bias in training data
- Modest per-person discrimination
- Clinical utility unproven
Latest papers
topQuery 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.
Pages like this
not linked directly; found by shared links- IdeaAutomatic germline testing for every cancer type where it changes care
Shares Germline vs somatic mutations, Germline (hereditary) testing, Prostate cancer, Colorectal cancer.
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Shares Germline (hereditary) testing, Prostate cancer, Colorectal cancer, HR-positive / HER2-negative breast cancer.
- TrialTMIST (Tomosynthesis Mammographic Imaging Screening Trial)
Shares Screening, Mammography & tomosynthesis, HR-positive / HER2-negative breast cancer.
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Shares Germline vs somatic mutations, Germline (hereditary) testing, Colorectal cancer, HR-positive / HER2-negative breast cancer.
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Shares Screening, Mammography & tomosynthesis, HR-positive / HER2-negative breast cancer.
- IdeaAncestry-aware pharmacology: drug-level sub-studies across populations before approval
Shares Germline vs somatic mutations, Germline (hereditary) testing.
- IdeaLet clinics contact relatives directly when a cancer gene is found
Shares Germline vs somatic mutations, Germline (hereditary) testing.
- IdeaOncology teams order germline tests; tele-genetic counsellors handle the results
Shares Germline (hereditary) testing, Colorectal cancer, HR-positive / HER2-negative breast cancer.