Browsing Genetics and Epidemiology by author "Houlston, Richard"
Now showing items 161-179 of 179
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Telomere structure and maintenance gene variants and risk of five cancer types.
Karami, S; Han, Y; Pande, M; Cheng, I; Rudd, J; et al. (WILEY, 2016-12-15)Telomeres cap chromosome ends, protecting them from degradation, double-strand breaks, and end-to-end fusions. Telomeres are maintained by telomerase, a reverse transcriptase encoded by TERT, and an RNA template encoded ... -
The clinical utility of polygenic risk scores for chronic lymphocytic leukemia.
Sud, A; Law, PJ; Houlston, RS (SPRINGERNATURE, 2021-12-01) -
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study.
Johansson, M; Carreras-Torres, R; Scelo, G; Purdue, MP; Mariosa, D; et al. (PUBLIC LIBRARY SCIENCE, 2019-01-03)BACKGROUND: Several obesity-related factors have been associated with renal cell carcinoma (RCC), but it is unclear which individual factors directly influence risk. We addressed this question using genetic markers as ... -
The non-coding variant rs1800734 enhances DCLK3 expression through long-range interaction and promotes colorectal cancer progression.
Liu, NQ; Ter Huurne, M; Nguyen, LN; Peng, T; Wang, S-Y; et al. (NATURE PORTFOLIO, 2017-02-14)Genome-wide association studies have identified a great number of non-coding risk variants for colorectal cancer (CRC). To date, the majority of these variants have not been functionally studied. Identification of ... -
Transcriptome-Wide Association Study Identifies New Candidate Susceptibility Genes for Glioma.
Atkins, I; Kinnersley, B; Ostrom, QT; Labreche, K; Il'yasova, D; et al. (AMER ASSOC CANCER RESEARCH, 2019-04-15)Genome-wide association studies (GWAS) have so far identified 25 loci associated with glioma risk, with most showing specificity for either glioblastoma (GBM) or non-GBM tumors. The majority of these GWAS susceptibility ... -
Transcriptome-wide association study of multiple myeloma identifies candidate susceptibility genes.
Went, M; Kinnersley, B; Sud, A; Johnson, DC; Weinhold, N; et al. (BMC, 2019-08-20)BACKGROUND: While genome-wide association studies (GWAS) of multiple myeloma (MM) have identified variants at 23 regions influencing risk, the genes underlying these associations are largely unknown. To identify candidate ... -
Transcriptome-wide association study reveals candidate causal genes for lung cancer.
Bossé, Y; Li, Z; Xia, J; Manem, V; Carreras-Torres, R; et al. (WILEY, 2020-04-01)We have recently completed the largest GWAS on lung cancer including 29,266 cases and 56,450 controls of European descent. The goal of our study has been to integrate the complete GWAS results with a large-scale expression ... -
Types of second primary cancers influence survival in chronic lymphocytic and hairy cell leukemia patients.
Zheng, G; Chattopadhyay, S; Sud, A; Sundquist, K; Sundquist, J; et al. (NATURE PUBLISHING GROUP, 2019-03-26) -
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
Dobbins, SE; Broderick, P; Chubb, D; Kinnersley, B; Sherborne, AL; et al. (SPRINGER, 2016-06-29)Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of ... -
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
Loveday, C; Litchfield, K; Levy, M; Holroyd, A; Broderick, P; et al. (Impact Journals, LLC, 2018-02-27)Testicular germ cell tumor (TGCT), the most common cancer in men aged 18 to 45 years, has a strong heritable basis. Genome-wide association studies (GWAS) have proposed single nucleotide polymorphisms (SNPs) at a number ... -
Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
Broderick, P; Dobbins, SE; Chubb, D; Kinnersley, B; Dunlop, MG; et al. (W B SAUNDERS CO-ELSEVIER INC, 2017-01-01)High-throughput sequencing analysis has accelerated searches for genes associated with risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, BUB1, BUB3, LRP6, and PTPN12 have been recently ... -
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
Orlando, G; Law, PJ; Palin, K; Tuupanen, S; Gylfe, A; et al. (OXFORD UNIV PRESS, 2016-06-01)To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ... -
Weekly COVID-19 testing with household quarantine and contact tracing is feasible and would probably end the epidemic.
Peto, J; Carpenter, J; Smith, GD; Duffy, S; Houlston, R; et al. (ROYAL SOC, 2020-06-24)The COVID-19 epidemic can probably be ended and normal life restored, perhaps quite quickly, by weekly SARS-CoV-2 RNA testing together with household quarantine and systematic contact tracing. Isolated outbreaks could then ... -
Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours.
Litchfield, K; Summersgill, B; Yost, S; Sultana, R; Labreche, K; et al. (NATURE PUBLISHING GROUP, 2015-01-22)Testicular germ cell tumours (TGCTs) are the most common cancer in young men. Here we perform whole-exome sequencing (WES) of 42 TGCTs to comprehensively study the cancer's mutational profile. The mutation rate is uniformly ... -
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.
Burns, A; Alsolami, R; Becq, J; Stamatopoulos, B; Timbs, A; et al. (NATURE PUBLISHING GROUP, 2018-02-01)Chronic lymphocytic leukaemia (CLL) consists of two biologically and clinically distinct subtypes defined by the abundance of somatic hypermutation (SHM) affecting the Ig variable heavy-chain locus (IgHV). The molecular ... -
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features.
Robbe, P; Ridout, KE; Vavoulis, DV; Dréau, H; Kinnersley, B; et al. (NATURE PORTFOLIO, 2022-11-01)The value of genome-wide over targeted driver analyses for predicting clinical outcomes of cancer patients is debated. Here, we report the whole-genome sequencing of 485 chronic lymphocytic leukemia patients enrolled in ... -
Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms.
Hoang, PH; Dobbins, SE; Cornish, AJ; Chubb, D; Law, PJ; et al. (2018-11)Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from ... -
Whole-genome sequencing of multiple myeloma reveals oncogenic pathways are targeted somatically through multiple mechanisms.
Hoang, PH; Dobbins, SE; Cornish, AJ; Chubb, D; Law, PJ; et al. (NATURE PUBLISHING GROUP, 2018-11-01)Multiple myeloma (MM) is a biologically heterogeneous malignancy, however, the mechanisms underlying this complexity are incompletely understood. We report an analysis of the whole-genome sequencing of 765 MM patients from ... -
Will polygenic risk scores for cancer ever be clinically useful?
Sud, A; Turnbull, C; Houlston, R (NATURE RESEARCH, 2021-05-21)