Browsing Genetics and Epidemiology by author "Houlston, Richard"
Now showing items 21-40 of 178
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Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.
Sud, A; Hemminki, K; Houlston, RS (WILEY, 2017-03-01)To evaluate the contribution of association studies of candidate polymorphisms to inherited predisposition to Hodgkin lymphoma (HL), we conducted a systematic review and meta-analysis of published case-control studies. Of ... -
CanVar: A resource for sharing germline variation in cancer patients.
Chubb, D; Broderick, P; Dobbins, SE; Houlston, RS (F1000 Research Ltd, 2016-01-01)The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of ... -
Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.
Jäger, R; Migliorini, G; Henrion, M; Kandaswamy, R; Speedy, HE; et al. (NATURE PORTFOLIO, 2015-02-19)Multiple regulatory elements distant from their targets on the linear genome can influence the expression of a single gene through chromatin looping. Chromosome conformation capture implemented in Hi-C allows for genome-wide ... -
Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.
Junk, SV; Schaeffeler, E; Zimmermann, M; Möricke, A; Beier, R; et al. (BMC, 2023-01-13)BACKGROUND: Characterization of clinical phenotypes in context with tumor and host genomic information can aid in the development of more effective and less toxic risk-adapted and targeted treatment strategies. To analyze ... -
Chromosome 1q21 abnormalities refine outcome prediction in patients with multiple myeloma - a meta-analysis of 2,596 trial patients.
Weinhold, N; Salwender, HJ; Cairns, DA; Raab, MS; Waldron, G; et al. (FERRATA STORTI FOUNDATION, 2021-10-01)Not available. -
Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic.
Sud, A; Jones, ME; Broggio, J; Loveday, C; Torr, B; et al. (ELSEVIER, 2020-08-01)BACKGROUND: Cancer diagnostics and surgery have been disrupted by the response of health care services to the coronavirus disease 2019 (COVID-19) pandemic. Progression of cancers during delay will impact on patients' ... -
Common Susceptibility Loci for Male Breast Cancer.
Maguire, S; Perraki, E; Tomczyk, K; Jones, ME; Fletcher, O; et al. (OXFORD UNIV PRESS INC, 2021-04-06)BACKGROUND: The etiology of male breast cancer (MBC) is poorly understood. In particular, the extent to which the genetic basis of MBC differs from female breast cancer (FBC) is unknown. A previous genome-wide association ... -
Constitutional mutation in CDKN2A is associated with long term survivorship in multiple myeloma: a case report.
Shah, V; Boyd, KD; Houlston, RS; Kaiser, MF (BMC, 2017-11-06)BACKGROUND: Multiple Myeloma is a cancer of plasma cells associated with significantly reduced survival. Long term survivorship from myeloma is very rare and despite advances in its treatment the disease is generally ... -
Copy number evolution and its relationship with patient outcome-an analysis of 178 matched presentation-relapse tumor pairs from the Myeloma XI trial.
Croft, J; Ellis, S; Sherborne, AL; Sharp, K; Price, A; et al. (SPRINGERNATURE, 2020-12-01)Structural chromosomal changes including copy number aberrations (CNAs) are a major feature of multiple myeloma (MM), however their evolution in context of modern biological therapy is not well characterized. To investigate ... -
Critical research gaps and recommendations to inform research prioritisation for more effective prevention and improved outcomes in colorectal cancer.
Lawler, M; Alsina, D; Adams, RA; Anderson, AS; Brown, G; et al. (BMJ PUBLISHING GROUP, 2018-01-01)OBJECTIVE: Colorectal cancer (CRC) leads to significant morbidity/mortality worldwide. Defining critical research gaps (RG), their prioritisation and resolution, could improve patient outcomes. DESIGN: RG analysis was ... -
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
Fehringer, G; Kraft, P; Pharoah, PD; Eeles, RA; Chatterjee, N; et al. (AMER ASSOC CANCER RESEARCH, 2016-09-01)Identifying genetic variants with pleiotropic associations can uncover common pathways influencing multiple cancers. We took a two-stage approach to conduct genome-wide association studies for lung, ovary, breast, prostate, ... -
Daratumumab, Cyclophosphamide, Bortezomib, Lenalidomide, and Dexamethasone as Induction and Extended Consolidation Improves Outcome in Ultra-High-Risk Multiple Myeloma.
Kaiser, MF; Hall, A; Walker, K; Sherborne, A; De Tute, RM; et al. (LIPPINCOTT WILLIAMS & WILKINS, 2023-08-10)PURPOSE: The multicenter OPTIMUM (MUKnine) phase II trial investigated daratumumab, low-dose cyclophosphamide, lenalidomide, bortezomib, and dexamethasone (Dara-CVRd) before and after autologous stem-cell transplant (ASCT) ... -
Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk.
Yang, W; Liu, H; Zhang, R; Freedman, JA; Han, Y; et al. (NATURE PORTFOLIO, 2022-06-30)Limited efforts have been made in assessing the effect of genome-wide profiling of RNA splicing-related variation on lung cancer risk. In the present study, we first identified RNA splicing-related genetic variants linked ... -
Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.
Fernandez-Rozadilla, C; Timofeeva, M; Chen, Z; Law, P; Thomas, M; et al. (NATURE PORTFOLIO, 2022-12-20)Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 ... -
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci.
Labreche, K; Kinnersley, B; Berzero, G; Di Stefano, AL; Rahimian, A; et al. (SPRINGER, 2018-05-01)Recent genome-wide association studies of glioma have led to the discovery of single nucleotide polymorphisms (SNPs) at 25 loci influencing risk. Gliomas are heterogeneous, hence to investigate the relationship between ... -
Disease consequences of higher adiposity uncoupled from its adverse metabolic effects using Mendelian randomisation.
Martin, S; Tyrrell, J; Thomas, EL; Bown, MJ; Wood, AR; et al. (eLIFE SCIENCES PUBL LTD, 2022-01-25)BACKGROUND: Some individuals living with obesity may be relatively metabolically healthy, whilst others suffer from multiple conditions that may be linked to adverse metabolic effects or other factors. The extent to which ... -
Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.
Sud, A; Torr, B; Jones, ME; Broggio, J; Scott, S; et al. (ELSEVIER SCIENCE INC, 2020-08-01)BACKGROUND: During the COVID-19 lockdown, referrals via the 2-week-wait urgent pathway for suspected cancer in England, UK, are reported to have decreased by up to 84%. We aimed to examine the impact of different scenarios ... -
Elevated Platelet Count Appears to Be Causally Associated with Increased Risk of Lung Cancer: A Mendelian Randomization Analysis.
Zhu, Y; Wei, Y; Zhang, R; Dong, X; Shen, S; et al. (AMER ASSOC CANCER RESEARCH, 2019-05-01)BACKGROUND: Platelets are a critical element in coagulation and inflammation, and activated platelets are linked to cancer risk through diverse mechanisms. However, a causal relationship between platelets and risk of lung ... -
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Andreou, A; Yngvadottir, B; Bassaganyas, L; Clark, G; Martin, E; et al. (OXFORD UNIV PRESS, 2022-08-23)Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel-Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the ... -
Epidemiology, genetics and treatment of multiple myeloma and precursor diseases.
Hemminki, K; Försti, A; Houlston, R; Sud, A (WILEY, 2021-12-15)Multiple myeloma (MM) is a hematological malignancy caused by the clonal expansion of plasma cells. The incidence of MM worldwide is increasing with greater than 140 000 people being diagnosed with MM per year. Whereas ...