Browsing Molecular Pathology by author "Swerdlow, Anthony"
Now showing items 1-14 of 14
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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Dunning, AM; Michailidou, K; Kuchenbaecker, KB; Thompson, D; French, JD; et al. (NATURE PUBLISHING GROUP, 2016-04-01)We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each ... -
Childhood body size and pubertal timing in relation to adult mammographic density phenotype.
Schoemaker, MJ; Jones, ME; Allen, S; Hoare, J; Ashworth, A; et al. (BMC, 2017-02-07)BACKGROUND: An earlier age at onset of breast development and longer time between pubertal stages has been implicated in breast cancer risk. It is not clear whether associations of breast cancer risk with puberty or ... -
Combined effects of endogenous sex hormone levels and mammographic density on postmenopausal breast cancer risk: results from the Breakthrough Generations Study.
Schoemaker, MJ; Folkerd, EJ; Jones, ME; Rae, M; Allen, S; et al. (NATURE PUBLISHING GROUP, 2014-04-02)BACKGROUND: Mammographic density and sex hormone levels are strong risk factors for breast cancer, but it is unclear whether they represent the same aetiological entity or are independent risk factors. METHODS: Within the ... -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element.
Baxter, JS; Johnson, N; Tomczyk, K; Gillespie, A; Maguire, S; et al. (CELL PRESS, 2021-07-01)A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), ... -
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.
Johnson, N; Dudbridge, F; Orr, N; Gibson, L; Jones, ME; et al. (BMC, 2014-05-26)INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and ... -
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 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 ... -
High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium.
Abubakar, M; Howat, WJ; Daley, F; Zabaglo, L; McDuffus, L-A; et al. (WILEY, 2016-07-01)Automated methods are needed to facilitate high-throughput and reproducible scoring of Ki67 and other markers in breast cancer tissue microarrays (TMAs) in large-scale studies. To address this need, we developed an automated ... -
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 ... -
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; et al. (NATURE PUBLISHING GROUP, 2013-04-01)Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We ... -
Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups.
Abubakar, M; Orr, N; Daley, F; Coulson, P; Ali, HR; et al. (BIOMED CENTRAL LTD, 2016-10-18)BACKGROUND: The value of KI67 in breast cancer prognostication has been questioned due to concerns on the analytical validity of visual KI67 assessment and methodological limitations of published studies. Here, we investigate ... -
Timing of pubertal stages and breast cancer risk: the Breakthrough Generations Study.
Bodicoat, DH; Schoemaker, MJ; Jones, ME; McFadden, E; Griffin, J; et al. (BIOMED CENTRAL LTD, 2014-02-04)INTRODUCTION: Breast development and hormonal changes at puberty might affect breast cancer risk, but epidemiological analyses have focussed largely on age at menarche and not at other pubertal stages. METHODS: We investigated ...