ArticleJournal of medical genetics2024
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.
Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- A randomized study of 2 risk assessment models for individualized breast cancer risk estimation.Journal of the National Cancer Institute · 2025Trial
- Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.NPJ breast cancer · 2026Article
- S4-multi: Enhancing polygenic score prediction in ancestrally diverse populations.HGG advances · 2026Article
- Breast cancer risk during oral contraceptive use in women with high polygenic risk.Breast cancer research : BCR · 2025Article
- Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.Breast cancer research : BCR · 2025Article
- Efficient blockLASSO for polygenic scores with applications to all of us and UK Biobank.BMC genomics · 2025Article
- Gender-Specific Genetic Predisposition to Breast Cancer:Cancers · 2024Review
- Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLow-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Risk Score (PRS) (BCAC 313, PRS
methodsWe developed an add-on sequencing panel to capture 313 risk variants in addition to the clinical screening of hereditary BC genes. Index patients with no pathogenic variant from 87 families, and 1000 population controls, were included in comparative PRS calculations. Including detailed family history, sequencing results and tumour pathology information, we used BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) V.6 to estimate contralateral and lifetime risks
resultsWomen with BC but no pathogenic variants in hereditary BC genes have a higher PRS
conclusionsOur results show the potential impact of incorporating PRS
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