Browsing Molecular Pathology by author "Houlston, Richard"
Now showing items 21-40 of 44
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Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
Went, M; Sud, A; Försti, A; Halvarsson, B-M; Weinhold, N; et al. (2018-09-13)Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ... -
Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.
Went, M; Sud, A; Försti, A; Halvarsson, B-M; Weinhold, N; et al. (NATURE PUBLISHING GROUP, 2018-09-13)Genome-wide association studies (GWAS) have transformed our understanding of susceptibility to multiple myeloma (MM), but much of the heritability remains unexplained. We report a new GWAS, a meta-analysis with previous ... -
Impact of mitochondrial DNA mutations in multiple myeloma.
Hoang, PH; Cornish, AJ; Chubb, D; Jackson, G; Kaiser, M; et al. (NATURE PUBLISHING GROUP, 2020-05-01) -
Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.
Loveday, C; Law, P; Litchfield, K; Levy, M; Holroyd, A; et al. (ELSEVIER SCIENCE BV, 2018-09-01)UNLABELLED: Testicular germ cell tumour (TGCT) is the most common cancer in young men. Multiplex TGCT families have been well reported and analyses of population cancer registries have demonstrated a four- to eightfold ... -
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
Litchfield, K; Loveday, C; Levy, M; Dudakia, D; Rapley, E; et al. (2018-06)Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ... -
Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk.
Levy, M; Hall, D; Sud, A; Law, P; Litchfield, K; et al. (WILEY, 2017-09-01)Observational studies have suggested anthropometric traits, particularly increased height are associated with an elevated risk of testicular cancer (testicular germ cell tumour). However, there is an inconsistency between ... -
Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression.
Li, N; Johnson, DC; Weinhold, N; Studd, JB; Orlando, G; et al. (NATURE PUBLISHING GROUP, 2016-11-24)Genome-wide association studies have identified several risk loci for multiple myeloma (MM); however, the mechanisms by which they influence MM are unknown. Here by using genetic association data and functional characterization, ... -
Mutational processes contributing to the development of multiple myeloma.
Hoang, PH; Cornish, AJ; Dobbins, SE; Kaiser, M; Houlston, RS (NATURE PUBLISHING GROUP, 2019-08-06)To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are ... -
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) ... -
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 ... -
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 ... -
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Wang, Y; McKay, JD; Rafnar, T; Wang, Z; Timofeeva, MN; et al. (NATURE PUBLISHING GROUP, 2014-09-11)We conducted imputation to the 1000 Genomes Project of four genome-wide association studies of lung cancer in populations of European ancestry (11,348 cases and 15,861 controls) and genotyped an additional 10,246 cases and ... -
Regions of homozygosity as risk factors for multiple myeloma.
Went, M; Sud, A; Li, N; Johnson, DC; Mitchell, JS; et al. (WILEY, 2019-07-01)Genomic regions of homozygosity (ROH), detectable in outbred populations, have been implicated as determinants of inherited risk. To examine whether ROH is associated with risk of multiple myeloma (MM), we performed ... -
Search for multiple myeloma risk factors using Mendelian randomization.
Went, M; Cornish, AJ; Law, PJ; Kinnersley, B; van Duin, M; et al. (AMER SOC HEMATOLOGY, 2020-05-26)The etiology of multiple myeloma (MM) is poorly understood. Summary data from genome-wide association studies (GWASs) of multiple phenotypes can be exploited in a Mendelian randomization (MR) phenome-wide association study ... -
Search for rare protein altering variants influencing susceptibility to multiple myeloma.
Scales, M; Chubb, D; Dobbins, SE; Johnson, DC; Li, N; et al. (IMPACT JOURNALS LLC, 2017-05-30)The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome ... -
Subclonal TP53 copy number is associated with prognosis in multiple myeloma.
Shah, V; Johnson, DC; Sherborne, AL; Ellis, S; Aldridge, FM; et al. (AMER SOC HEMATOLOGY, 2018-12-06)Multiple myeloma (MM) is a genetically heterogeneous cancer of bone marrow plasma cells with variable outcome. To assess the prognostic relevance of clonal heterogeneity of TP53 copy number, we profiled tumors from 1777 ... -
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 ... -
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 ...