Browsing Molecular Pathology by author "Houlston, Richard"
Now showing items 1-20 of 44
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A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.
Vijayakrishnan, J; Kumar, R; Henrion, MYR; Moorman, AV; Rachakonda, PS; et al. (NATURE PUBLISHING GROUP, 2017-03-01)Genome-wide association studies (GWASs) have shown that common genetic variation contributes to the heritable risk of childhood acute lymphoblastic leukemia (ALL). To identify new susceptibility loci for the largest subtype ... -
An enhanced genetic model of relapsed IGH-translocated multiple myeloma evolutionary dynamics.
Hoang, PH; Cornish, AJ; Sherborne, AL; Chubb, D; Kimber, S; et al. (SPRINGERNATURE, 2020-10-14)Most patients with multiple myeloma (MM) die from progressive disease after relapse. To advance our understanding of MM evolution mechanisms, we performed whole-genome sequencing of 80 IGH-translocated tumour-normal newly ... -
Assessing the effect of obesity-related traits on multiple myeloma using a Mendelian randomisation approach.
Went, M; Sud, A; Law, PJ; Johnson, DC; Weinhold, N; et al. (NATURE PUBLISHING GROUP, 2017-06-16) -
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 ... -
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. -
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 ... -
Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology.
Went, M; Sud, A; Speedy, H; Sunter, NJ; Försti, A; et al. (NATURE PUBLISHING GROUP, 2018-12-21)The clustering of different types of B-cell malignancies in families raises the possibility of shared aetiology. To examine this, we performed cross-trait linkage disequilibrium (LD)-score regression of multiple myeloma ... -
Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.
Kandaswamy, R; Sava, GP; Speedy, HE; Beà, S; Martín-Subero, JI; et al. (CELL PRESS, 2016-08-23)Chronic lymphocytic leukemia (CLL) is an adult B cell malignancy. Genome-wide association studies show that variation at 15q15.1 influences CLL risk. We deciphered the causal variant at 15q15.1 and the mechanism by which ... -
Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.
Li, N; Johnson, DC; Weinhold, N; Kimber, S; Dobbins, SE; et al. (CELL PRESS, 2017-09-12)Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by ... -
Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
Law, PJ; Berndt, SI; Speedy, HE; Camp, NJ; Sava, GP; et al. (NATURE PUBLISHING GROUP, 2017-02-06)Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed ... -
Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.
Law, PJ; Sud, A; Mitchell, JS; Henrion, M; Orlando, G; et al. (NATURE PORTFOLIO, 2017-01-23)B-cell malignancies (BCM) originate from the same cell of origin, but at different maturation stages and have distinct clinical phenotypes. Although genetic risk variants for individual BCMs have been identified, an agnostic, ... -
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.
Mitchell, JS; Li, N; Weinhold, N; Försti, A; Ali, M; et al. (NATURE PUBLISHING GROUP, 2016-07-01)Multiple myeloma (MM) is a plasma cell malignancy with a significant heritable basis. Genome-wide association studies have transformed our understanding of MM predisposition, but individual studies have had limited power ... -
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Vijayakrishnan, J; Studd, J; Broderick, P; Kinnersley, B; Holroyd, A; et al. (NATURE PORTFOLIO, 2018-04-09)Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform ... -
Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.
Sud, A; Thomsen, H; Orlando, G; Försti, A; Law, PJ; et al. (AMER SOC HEMATOLOGY, 2018-11-08)To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL ... -
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday, C; Litchfield, K; Proszek, PZ; Cornish, AJ; Santo, F; et al. (NATURE PUBLISHING GROUP, 2020-05-04)While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and ... -
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
Speedy, HE; Kinnersley, B; Chubb, D; Broderick, P; Law, PJ; et al. (AMER SOC HEMATOLOGY, 2016-11-10)Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ... -
Germline variants at SOHLH2 influence multiple myeloma risk.
Duran-Lozano, L; Thorleifsson, G; Lopez de Lapuente Portilla, A; Niroula, A; Went, M; et al. (SPRINGERNATURE, 2021-04-19)Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells. While there is epidemiological evidence for inherited susceptibility, the molecular basis remains incompletely understood. We report a ... -
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
Litchfield, K; Levy, M; Orlando, G; Loveday, C; Law, PJ; et al. (NATURE PUBLISHING GROUP, 2017-07-01)Genome-wide association studies (GWAS) have transformed understanding of susceptibility to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis ...