Browsing Molecular Pathology by author "Kinnersley, Benjamin"
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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 ... -
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 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 ... -
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 ... -
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 ... -
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 ... -
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 ...