Browsing Genetics and Epidemiology by author "Houlston, Richard"
Now showing items 121-140 of 179
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Partitioned glioma heritability shows subtype-specific enrichment in immune cells.
Ostrom, QT; Edelson, J; Byun, J; Han, Y; Kinnersley, B; et al. (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.
Purdue, MP; Song, L; Scélo, G; Houlston, RS; Wu, X; et al. (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.
Yin, J; Liu, H; Liu, Z; Owzar, K; Han, Y; et al. (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.
Gray, V; Briggs, S; Palles, C; Jaeger, E; Iveson, T; et al. (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 ... -
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
Schmidt, AF; Holmes, MV; Preiss, D; Swerdlow, DI; Denaxas, S; et al. (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.
Zhang, X; Li, X; He, Y; Law, PJ; Farrington, SM; et al. (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.
Went, M; Sud, A; Mills, C; Hyde, A; Culliford, R; et al. (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 ... -
PhyreRisk: A Dynamic Web Application to Bridge Genomics, Proteomics and 3D Structural Data to Guide Interpretation of Human Genetic Variants.
Ofoegbu, TC; David, A; Kelley, LA; Mezulis, S; Islam, SA; et al. (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.
Zuber, V; Marconett, CN; Shi, J; Hua, X; Wheeler, W; et al. (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 risk scores to stratify cancer screening should predict mortality not incidence.
Vickers, AJ; Sud, A; Bernstein, J; Houlston, R (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 ... -
Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.
Tamm, R; Mägi, R; Tremmel, R; Winter, S; Mihailov, E; et al. (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 ... -
Predicting ultrahigh risk multiple myeloma by molecular profiling: an analysis of newly diagnosed transplant eligible myeloma XI trial patients.
Shah, V; Sherborne, AL; Johnson, DC; Ellis, S; Price, A; et al. (SPRINGERNATURE, 2020-03-11) -
Prediction of outcome in newly diagnosed myeloma: a meta-analysis of the molecular profiles of 1905 trial patients.
Shah, V; Sherborne, AL; Walker, BA; Johnson, DC; Boyle, EM; et al. (NATURE PUBLISHING GROUP, 2018-01-01)Robust establishment of survival in multiple myeloma (MM) and its relationship to recurrent genetic aberrations is required as outcomes are variable despite apparent similar staging. We assayed copy number alterations (CNA) ... -
Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.
Loveday, C; Sud, A; Jones, ME; Broggio, J; Scott, S; et al. (BMJ PUBLISHING GROUP, 2020-08-27)OBJECTIVE: To evaluate the impact of faecal immunochemical testing (FIT) prioritisation to mitigate the impact of delays in the colorectal cancer (CRC) urgent diagnostic (2-week-wait (2WW)) pathway consequent from the ... -
Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis.
May-Wilson, S; Sud, A; Law, PJ; Palin, K; Tuupanen, S; et al. (ELSEVIER SCI LTD, 2017-10-01)BACKGROUND: While dietary fat has been established as a risk factor for colorectal cancer (CRC), associations between fatty acids (FAs) and CRC have been inconsistent. Using Mendelian randomisation (MR), we sought to ... -
Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.
Orlando, G; Law, PJ; Cornish, AJ; Dobbins, SE; Chubb, D; et al. (NATURE PUBLISHING GROUP, 2018-10-01)Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the ... -
Protein-altering germline mutations implicate novel genes related to lung cancer development.
Ji, X; Mukherjee, S; Landi, MT; Bosse, Y; Joubert, P; et al. (NATURE PORTFOLIO, 2020-05-11)Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect ... -
Publisher Correction: Cancer genetics, precision prevention and a call to action.
Turnbull, C; Sud, A; Houlston, RS (2019-01)In the version of this article originally published, there was an error in the second-to-last sentence of the abstract. In this sentence, the final phrase "to identify carriers of first-wave gene mutation carriers" should ... -
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
Chubb, D; Broderick, P; Dobbins, SE; Frampton, M; Kinnersley, B; et al. (NATURE PUBLISHING GROUP, 2016-06-22)Colorectal cancer (CRC) displays a complex pattern of inheritance. It is postulated that much of the missing heritability of CRC is enshrined in high-impact rare alleles, which are mechanistically and clinically important. ... -
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
Litchfield, K; Levy, M; Dudakia, D; Proszek, P; Shipley, C; et al. (NATURE PUBLISHING GROUP, 2016-12-20)Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ...