Browsing Genetics and Epidemiology by title
Now showing items 347-366 of 515
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Pan-cancer analysis of whole genomes.
(NATURE PORTFOLIO, 2020-02-06)Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1-3. Here we report the integrative analysis of ... -
Partitioned glioma heritability shows subtype-specific enrichment in immune cells.
(OXFORD UNIV PRESS INC, 2021-08-02)BACKGROUND: Epidemiological studies of adult glioma have identified genetic syndromes and 25 heritable risk loci that modify individual risk for glioma, as well increased risk in association with exposure to ionizing ... -
Pathway Analysis of Renal Cell Carcinoma Genome-Wide Association Studies Identifies Novel Associations.
(AMER ASSOC CANCER RESEARCH, 2020-10-01)BACKGROUND: Much of the heritable risk of renal cell carcinoma (RCC) associated with common genetic variation is unexplained. New analytic approaches have been developed to increase the discovery of risk variants in ... -
Pathway-analysis of published genome-wide association studies of lung cancer: A potential role for the CYP4F3 locus.
(WILEY, 2017-06-01)The fatty acids (FAs) metabolism is suggested to play a pivotal role in the development of lung cancer, and we explored that by conducting a pathway-based analysis. We performed a meta-analysis of published datasets of six ... -
Pattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer.
(OXFORD UNIV PRESS INC, 2019-08-01)BACKGROUND: Constitutional loss of function (LOF) single nucleotide polymorphisms (SNPs) in pattern recognition receptors FPR1, TLR3, and TLR4 have previously been reported to predict oxaliplatin benefit in colorectal ... -
Patterns of recurrence after prostate bed radiotherapy.
(ELSEVIER IRELAND LTD, 2019-12-01)BACKGROUND AND PURPOSE: Prostate bed radiotherapy is a standard treatment after radical prostatectomy. Recent evidence suggests that, for patients with a PSA > 0.34 ng/ml, the radiotherapy treatment volume should include ... -
Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
(SPRINGERNATURE, 2021-06-14)BACKGROUND: We previously developed an African-ancestry-specific polygenic hazard score (PHS46+African) that substantially improved prostate cancer risk stratification in men with African ancestry. The model consists of ... -
Phase 1/2 Dose-Escalation Study of the Use of Intensity Modulated Radiation Therapy to Treat the Prostate and Pelvic Nodes in Patients With Prostate Cancer.
(ELSEVIER SCIENCE INC, 2017-12-01)PURPOSE: To investigate the feasibility of dose escalation and hypofractionation of pelvic lymph node intensity modulated radiation therapy (PLN-IMRT) in prostate cancer (PCa). METHODS AND MATERIALS: In a phase 1/2 study, ... -
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
(BMC, 2019-10-29)BACKGROUND: We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. METHODS: Published and individual participant ... -
Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank.
(SPRINGERNATURE, 2022-03-23)BACKGROUND: Associations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies. METHODS: We set out to determine ... -
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 ...