Browsing Genetics and Epidemiology by title
Now showing items 357-376 of 515
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Phenome-wide Mendelian randomisation analysis of 378,142 cases reveals risk factors for eight common cancers.
(NATURE PORTFOLIO, 2024-03-25)For many cancers there are only a few well-established risk factors. Here, we use summary data from genome-wide association studies (GWAS) in a Mendelian randomisation (MR) phenome-wide association study (PheWAS) to identify ... -
Phenotypic noise and plasticity in cancer evolution.
(Elsevier BV, 2023-11-13)Non-genetic alterations can produce changes in a cell's phenotype. In cancer, these phenomena can influence a cell's fitness by conferring access to heritable, beneficial phenotypes. Herein, we argue that current discussions ... -
PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
(IMPACT JOURNALS LLC, 2017-11-28)Most non-BRCA1/2 breast cancer families have no identified genetic cause. We used linkage and haplotype analyses in familial and sporadic breast cancer cases to identify a susceptibility locus on chromosome 6q. Two independent ... -
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants.
(ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD, 2019-06-14)PhyreRisk is an open-access, publicly accessible web application for interactively bridging genomic, proteomic and structural data facilitating the mapping of human variants onto protein structures. A major advance over ... -
Pleiotropic Analysis of Lung Cancer and Blood Triglycerides.
(OXFORD UNIV PRESS INC, 2016-12-01)Epidemiologically related traits may share genetic risk factors, and pleiotropic analysis could identify individual loci associated with these traits. Because of their shared epidemiological associations, we conducted ... -
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations.
(NATURE PORTFOLIO, 2021-02-23)Genetic models for cancer have been evaluated using almost exclusively European data, which could exacerbate health disparities. A polygenic hazard score (PHS1) is associated with age at prostate cancer diagnosis and ... -
Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.
(BMJ PUBLISHING GROUP, 2018-01-10)OBJECTIVES: To develop and validate a genetic tool to predict age of onset of aggressive prostate cancer (PCa) and to guide decisions of who to screen and at what age. DESIGN: Analysis of genotype, PCa status, and age to ... -
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.
(SPRINGERNATURE, 2022-03-01)Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance ... -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
(ELSEVIER SCIENCE INC, 2020-10-01)PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2 pathogenic variant carriers. METHODS: ... -
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
(CELL PRESS, 2019-01-03)Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen ... -
Polygenic risk scores to stratify cancer screening should predict mortality not incidence.
(NATURE PORTFOLIO, 2022-05-30)Population-based cancer screening programs such as mammography or colonscopy generally directed at all healthy individuals in a given age stratum. It has recently been proposed that cancer screening could be restricted to ... -
Polygenic risk-tailored screening for prostate cancer: A benefit-harm and cost-effectiveness modelling study.
(PUBLIC LIBRARY SCIENCE, 2019-12-01)BACKGROUND: The United States Preventive Services Task Force supports individualised decision-making for prostate-specific antigen (PSA)-based screening in men aged 55-69. Knowing how the potential benefits and harms of ... -
Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.
(WILEY, 2017-05-01)Thiopurine-related hematotoxicity in pediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S-methyltransferase (TPMT) activity. While ... -
A polymorphism in the promoter of FRAS1 is a candidate SNP associated with metastatic prostate cancer.
(WILEY, 2021-07-01)BACKGROUND: Inflammation and one of its mediators, NF-kappa B (NFκB), have been implicated in prostate cancer carcinogenesis. We assessed whether germline polymorphisms associated with NFκB are associated with the risk of ... -
Polyunsaturated fatty acids and prostate cancer risk: a Mendelian randomisation analysis from the PRACTICAL consortium.
(SPRINGERNATURE, 2016-08-23)BACKGROUND: Prostate cancer is a common cancer worldwide with no established modifiable lifestyle factors to guide prevention. The associations between polyunsaturated fatty acids (PUFAs) and prostate cancer risk have been ... -
Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies.
(WILEY, 2016-09-01)Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis ... -
Potential utility of risk stratification for multicancer screening with liquid biopsy tests.
(NATURE PORTFOLIO, 2023-04-22)Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging ... -
Practical considerations for optimising homologous recombination repair mutation testing in patients with metastatic prostate cancer.
(WILEY, 2021-02-25)Analysis of the genomic landscape of prostate cancer has identified different molecular subgroups with relevance for novel or existing targeted therapies. The recent approvals of the poly(ADP-ribose) polymerase (PARP) ... -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.
(NATURE PORTFOLIO, 2023-05-12)We assessed the PREDICT v 2.2 for prognosis of breast cancer patients with pathogenic germline BRCA1 and BRCA2 variants, using follow-up data from 5453 BRCA1/2 carriers from the Consortium of Investigators of Modifiers of ...
