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Isoform-level analyses of 6 cancers uncover extensive genetic risk mechanisms undetected at the gene-level.
medRxiv
October 2024
Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Integrating genome-wide association study (GWAS) and transcriptomic datasets can help identify potential mediators for germline genetic risk of cancer. However, traditional methods have been largely unsuccessful because of an overreliance on total gene expression. These approaches overlook alternative splicing, which can produce multiple isoforms from the same gene, each with potentially different effects on cancer risk.
View Article and Find Full Text PDFGenetic Predisposition to Benign Prostatic Hyperplasia: Where Do We Stand?
Eur Urol Open Sci
December 2024
Department of Urology, LMU University Hospital, LMU Munich, Munich, Germany.
Article Synopsis
- * An informal review of various studies (candidate gene, GWAS, and Mendelian randomization) reveals links between BPH and genetic variants related to hormones and inflammation, though findings remain inconclusive and population-dependent.
- * Conclusions point to challenges in targeting the identified genes with drugs due to potential side effects and the lack of specific analyses available, emphasizing that patient risk profiles for BPH need more quantitative evaluation.
Germline pathogenic variants in prostate cancer.
Pathol Res Pract
December 2024
Virginia Urology, Richmond, VA 23235, United States.
Article Synopsis
- A significant portion of prostate cancer cases may have a hereditary link, prompting a study into germline pathogenic variants among patients.
- Among 160 prostate cancer patients tested, 12% were found to have pathogenic variants in various genes, with no notable differences in clinicopathologic characteristics between those with and without these variants.
- The study highlighted that patients with a family history of cancer were more likely to possess these genetic variants, suggesting a need for further research with larger samples to explore the connections between genetic and clinical data.
Understanding the Biological Basis of Polygenic Risk Scores and Disparities in Prostate Cancer: A Comprehensive Genomic Analysis.
Cancer Inform
October 2024
Bioinformatics Core of Xavier NIH RCMI Center of Cancer Research, Xavier University of Louisiana, New Orleans, LA, USA.
Objectives: For prostate cancer (PCa), hundreds of risk variants have been identified. It remains unknown whether the polygenic risk score (PRS) that combines the effects of these variants is also a sufficiently informative metric with relevance to the molecular mechanisms of carcinogenesis in prostate. We aimed to understand the biological basis of PRS and racial disparities in the cancer.
View Article and Find Full Text PDFInheritance patterns of lower urinary tract symptoms in adults: a systematic review.
BJU Int
February 2025
Guy's King's and St Thomas' School of Medical Education, King's College London, London, UK.
Article Synopsis
- The study aims to assess how genetic factors influence lower urinary tract symptoms (LUTS) in adults by reviewing various research articles.
- The analysis included 34 studies, focusing on symptoms related to benign prostatic enlargement, urinary incontinence, and other urinary issues, identifying genetic links to conditions like BPE and certain types of UI.
- The conclusion highlights the complexity of LUTS inheritance and emphasizes the need for further research to better understand these genetic patterns.
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