Browsing Genetics and Epidemiology by author "Houlston, Richard"
Now showing items 81-100 of 179
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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 MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles, C; West, HD; Chew, E; Galavotti, S; Flensburg, C; et al. (CELL PRESS, 2022-05-05)We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic ... -
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 ... -
Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer.
Wills, C; Watts, K; Maughan, TS; Fisher, D; Al-Tassan, NA; et al. (WILEY, 2023-06-01)BACKGROUND: Therapeutic agents that specifically target patients with RAS mutant colorectal cancer (CRC) are needed. We sought potential drug targets by relating genome-wide association study and survival data in patients ... -
Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics.
Ostrom, QT; Egan, KM; Nabors, LB; Gerke, T; Thompson, RC; et al. (WILEY, 2020-02-01)Glioma incidence is highest in non-Hispanic Whites, and to date, glioma genome-wide association studies (GWAS) to date have only included European ancestry (EA) populations. African Americans and Hispanics in the US have ... -
Glioma-related seizures in relation to histopathological subtypes: a report from the glioma international case-control study.
Berntsson, SG; Merrell, RT; Amirian, ES; Armstrong, GN; Lachance, D; et al. (SPRINGER HEIDELBERG, 2018-06-01)BACKGROUND: The purpose of this study was to evaluate the distribution of glioma-related seizures and seizure control at the time of tumor diagnosis with respect to tumor histologic subtypes, tumor treatment and patient ... -
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 ... -
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
Vijayakrishnan, J; Qian, M; Studd, JB; Yang, W; Kinnersley, B; et al. (NATURE PORTFOLIO, 2019-11-25)There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with ... -
Identification of miRSNPs associated with the risk of multiple myeloma.
Macauda, A; Calvetti, D; Maccari, G; Hemminki, K; Försti, A; et al. (WILEY-BLACKWELL, 2017-02-01)Multiple myeloma (MM) is a malignancy of plasma cells usually infiltrating the bone marrow, associated with the production of a monoclonal immunoglobulin (M protein) which can be detected in the blood and/or urine. Multiple ... -
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 ... -
Identification of recurrent noncoding mutations in B-cell lymphoma using capture Hi-C.
Cornish, AJ; Hoang, PH; Dobbins, SE; Law, PJ; Chubb, D; et al. (AMER SOC HEMATOLOGY, 2019-01-08)The identification of driver mutations is fundamental to understanding oncogenesis. Although genes frequently mutated in B-cell lymphoma have been identified, the search for driver mutations has largely focused on the ... -
Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk.
Ji, X; Bossé, Y; Landi, MT; Gui, J; Xiao, X; et al. (NATURE RESEARCH, 2018-08-13)Genome-wide association studies (GWAS) identified the chromosome 15q25.1 locus as a leading susceptibility region for lung cancer. However, the pathogenic pathways, through which susceptibility SNPs within chromosome 15q25.1 ... -
Impact of atopy on risk of glioma: a Mendelian randomisation study.
Disney-Hogg, L; Cornish, AJ; Sud, A; Law, PJ; Kinnersley, B; et al. (BMC, 2018-03-15)BACKGROUND: An inverse relationship between allergies with glioma risk has been reported in several but not all epidemiological observational studies. We performed an analysis of genetic variants associated with atopy to ... -
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) -
Influence of obesity-related risk factors in the aetiology of glioma.
Disney-Hogg, L; Sud, A; Law, PJ; Cornish, AJ; Kinnersley, B; et al. (SPRINGERNATURE, 2018-04-01)BACKGROUND: Obesity and related factors have been implicated as possible aetiological factors for the development of glioma in epidemiological observation studies. We used genetic markers in a Mendelian randomisation ... -
Insight into genetic predisposition to chronic lymphocytic leukemia from integrative epigenomics.
Speedy, HE; Beekman, R; Chapaprieta, V; Orlando, G; Law, PJ; et al. (NATURE PUBLISHING GROUP, 2019-08-09)Genome-wide association studies have provided evidence for inherited genetic predisposition to chronic lymphocytic leukemia (CLL). To gain insight into the mechanisms underlying CLL risk we analyze chromatin accessibility, ... -
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
Culliford, R; Cornish, AJ; Law, PJ; Farrington, SM; Palin, K; et al. (SPRINGERNATURE, 2021-03-16)BACKGROUND: Epidemiological studies of the relationship between gallstone disease and circulating levels of bilirubin with risk of developing colorectal cancer (CRC) have been inconsistent. To address possible confounding ... -
Lack of association between modifiable exposures and glioma risk: a Mendelian randomization analysis.
Saunders, CN; Cornish, AJ; Kinnersley, B; Law, PJ; Claus, EB; et al. (OXFORD UNIV PRESS INC, 2019-10-30)BACKGROUND: The etiological basis of glioma is poorly understood. We have used genetic markers in a Mendelian randomization (MR) framework to examine if lifestyle, cardiometabolic, and inflammatory factors influence the ...