ArticleEuropean urology2021
Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk.
Article in European urology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Familial risks in prostate cancer between brothers and half-brothers as clues to germline genetic and environmental causes.Familial cancer · 2026Article
- Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.European urology · 2026Article
- Combinatorial effects of gene dosage, polygenic background and environment on complex traits.medRxiv : the preprint server for health sciences · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Developing a germline prostate cancer risk test incorporating rare and common variants, to inform clinical decisions: a route to precision oncology.Genome medicine · 2026Article
- Identifying Patients at Risk of Early Lethal Prostate Cancer by Integrating Family History, Polygenic Risk Score, Rare Variants in DNA Repair Genes, and Lifestyle Factors.European urology oncology · 2026Article
- Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study.Nature cancer · 2026Article
- HOXB13 in cancer development: molecular mechanisms and clinical implications.Frontiers of medicine · 2025Review
- Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.Cancer medicine · 2025Observational
- Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.The Lancet. Respiratory medicine · 2025Observational
- A Polygenic Risk Score for Late Bladder Toxicity Following Radiotherapy for Non-Metastatic Prostate Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Assessment of a Polygenic Risk Score in Screening for Prostate Cancer.The New England journal of medicine · 2025Observational
- Collider Bias Is an Insufficient Explanation for the Inverse Obesity Paradox in Prostate Cancer.Cancer medicine · 2025Article
- Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men.Nature communications · 2025Article
- The burden of prostate cancer in the North Africa and Middle East Region from 1990 to 2021.Scientific reports · 2025Article
- Review
- Clinical validation of an integrated risk assessment test incorporating genomic and non-genomic data for sporadic breast cancer in Colombia.Frontiers in genetics · 2025Article
- From molecular mechanisms of prostate cancer to translational applications: based on multi-omics fusion analysis and intelligent medicine.Health information science and systems · 2024Review
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Although prostate cancer is known to have a strong genetic basis and is influenced by both common and rare variants, the ability to investigate the combined effect of such genetic risk factors has been limited to date. We conducted an investigation of 81 094 men from the UK Biobank, including 3568 prostate cancer cases, to examine the combined effect of rare pathogenic/likely pathogenic/deleterious (P/LP/D) germline variants and common prostate cancer risk variants, measured using a polygenic risk score (PRS), on prostate cancer risk. The absolute risk of prostate cancer for HOXB13, BRCA2, ATM, and CHEK2 P/LP/D carriers ranged from 9% to 56%, and the absolute risk in noncarriers ranged from 2% to 31%, by age 85 yr, for men in the lowest and highest PRS decile, respectively. The high-penetrant HOXB13 G84E prostate cancer risk variant was most common in cases in the lowest PRS quintile (4.4%) and least common in cases in the highest PRS quintile (0.5%; p = 0.005), whereas there was no statistically significant difference in frequencies by PRS in controls. While rare and common variants strongly and distinctly influence prostate cancer onset, consideration of rare and common variants in conjunction will lead to more precise estimates of a man's lifetime risk of prostate cancer. PATIENT SUMMARY: We found that the risk of prostate cancer conveyed by rare variants could vary depending on an individual's genetic profile of common risk variants. This implies that in order to comprehensively assess genetic risk of prostate cancer, it is important to consider both rare and common variants.
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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.