☆ 4.6 Review

Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

GENETICS IN MEDICINE (2022)

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Summary: The study shows that Bayesian PRS methods can estimate the individual PRS variance and generate well-calibrated credible intervals through posterior sampling. Analysis of real traits in the UK Biobank demonstrates that large uncertainty in polygenic risk score (PRS) estimates at the individual level impacts the interpretation of subsequent analyses such as PRS-based stratification.

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Summary: The study assessed the feasibility and uptake of a community-based prostate cancer screening program based on genetic risk in the UK, showing an overall uptake of 26%. The majority of men with increased genetic risk underwent further screening tests. The larger BARCODE1 study recruiting 5000 men will further explore the role of genetic profiling in population prostate cancer screening.

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Summary: The study evaluated the joint associations between a new PRS313 and questionnaire-based breast cancer risk factors, revealing that the PRS313 odds ratio did not differ significantly across strata defined by individual risk factors. A multiplicative model assumption was adopted for breast cancer risk, and the variation in absolute lifetime risk of breast cancer associated with classical risk factors was greater for women with higher genetic risk.

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Article Biochemistry & Molecular Biology

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Summary: Polygenic risk scores (PRSs) aggregate multiple small effects of alleles in the human genome to estimate an individual's risk of disease or disease-related traits. By addressing key issues, PRSs can be used responsibly to improve human health.

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Mikey B. Lebrett et al.

Summary: Lung cancer is the most common cancer globally, with genetic factors, screening efficacy, and genetic risk factors playing important roles in the occurrence, prediction, and improvement of screening accuracy for LC.

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Andreas A. Karlsson et al.

Summary: The European Randomized Study of Screening for Prostate Cancer found that using the Stockholm3 Model (S3M) as a reflex test for PSA >= 1 ng/mL can reduce prostate cancer mortality. Cost-effectiveness analysis showed that the S3M test is more cost-effective than the PSA test, especially at higher biopsy costs.

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Rebecca E. Graff et al.

Summary: This study investigated polygenic risk score (PRS)-specific pleiotropy across 16 cancers in European ancestry individuals, finding positive and inverse cross-cancer associations. The study identified bidirectional relationships between certain cancer types and highlighted the potential for informing risk prediction and precision cancer prevention strategies.

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Benefit, Harm, and Cost-effectiveness Associated With Magnetic Resonance Imaging Before Biopsy in Age-based and Risk-stratified Screening for Prostate Cancer

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Summary: Cancer risk prediction plays a crucial role in precision early detection by matching screening intensity to risk levels. Utilizing genetic testing for risk assessment, researchers found that risk-stratified screening policies were more cost-effective than universal screening, especially when risk stratification was tailored based on individual risk factors and population heterogeneity.

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Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score

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Summary: This study evaluated the joint association of pathogenic variants in breast cancer predisposition genes and polygenic risk scores with breast cancer in the general population. The findings suggest that polygenic risk scores facilitate personalized breast cancer risk assessment among carriers of pathogenic variants in predisposition genes.

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PLOS MEDICINE (2019)

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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

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Adding genetic risk score to family history identifies twice as many high-risk men for prostate cancer: Results from the prostate cancer prevention trial

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