ArticleCommunications biology2024
Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers.
Article in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A comprehensive compilation of data on the association between XRCC3 polymorphisms and thyroid cancer susceptibility.BMC endocrine disorders · 2025Pooled it
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Polygenic scores for risk of pancreatic ductal adenocarcinoma: evaluation of novel and published models.NPJ precision oncology · 2026Article
- Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study.Nature cancer · 2026Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.NPJ genomic medicine · 2026Article
- Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic risk scores in routine genetic diagnostics: what lies ahead?Journal of community genetics · 2025Article
- Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.medRxiv : the preprint server for health sciences · 2025Article
- High familial risks in some rare cancers may pinpoint to hidden germline genetics: focus on esophageal, stomach, small intestinal, testis, thyroid and bone cancers.Hereditary cancer in clinical practice · 2025Review
- Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Polygenic risk score (PRS) and rare monogenic variant screening are valuable tools for predicting cancer risk and identifying individuals at high risk. Integrating both common and rare genetic variants is crucial for accurate risk assessment. However, estimating the impacts of rare variants on cancer and combining them with PRS remains challenging. Here, we analyze 454,711 exome sequencing and 487,409 array UK Biobank samples, focusing on breast and prostate cancers. We introduce an expanded PRS (EPRS) approach, yielding a systematic model for more effective risk stratification. By prioritizing and clustering genes with cancer-specific rare variants based on odds ratios and population-attributable fraction, we refine risk stratification by combining both monogenic and polygenic effects. Individuals in high-PRS groups with rare high-impact gene variants show up to 15- and 22-fold higher risk for breast and prostate cancers, respectively, compared to those in the intermediate-PRS groups without rare variants. Combined risk profiles vary across distinct rare variant clusters within the same PRS group for both cancers. Our EPRS approach enhances risk stratification for breast and prostate cancers, offering important insights for future research and potential applications to other cancer types.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.