Browsing by author "Swerdlow, Anthony"
Now showing items 41-60 of 108
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Fachal, L; Aschard, H; Beesley, J; Barnes, DR; Allen, J; et al. (NATURE PORTFOLIO, 2020-01-07)Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association ... -
Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus.
Horne, HN; Chung, CC; Zhang, H; Yu, K; Prokunina-Olsson, L; et al. (PUBLIC LIBRARY SCIENCE, 2016-08-24)The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ... -
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.
Shi, J; Zhang, Y; Zheng, W; Michailidou, K; Ghoussaini, M; et al. (WILEY, 2016-09-15)Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ... -
Five endometrial cancer risk loci identified through genome-wide association analysis.
Cheng, TH; Thompson, DJ; O'Mara, TA; Painter, JN; Glubb, DM; et al. (NATURE PORTFOLIO, 2016-06-01)We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ... -
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), ... -
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Lawrenson, K; Kar, S; McCue, K; Kuchenbaeker, K; Michailidou, K; et al. (NATURE PORTFOLIO, 2016-09-07)A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ... -
Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium.
Barrdahl, M; Rudolph, A; Hopper, JL; Southey, MC; Broeks, A; et al. (WILEY, 2017-11-01)Investigating the most likely causal variants identified by fine-mapping analyses may improve the power to detect gene-environment interactions. We assessed the interplay between 70 single nucleotide polymorphisms identified ... -
Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
Park, J; Choi, J-Y; Choi, J; Chung, S; Song, N; et al. (MDPI, 2021-05-14)In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean ... -
Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk.
Yang, Y; Wu, L; Shu, X; Lu, Y; Shu, X-O; et al. (AMER ASSOC CANCER RESEARCH, 2019-02-01)DNA methylation is instrumental for gene regulation. Global changes in the epigenetic landscape have been recognized as a hallmark of cancer. However, the role of DNA methylation in epithelial ovarian cancer (EOC) remains ... -
Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Muranen, TA; Greco, D; Blomqvist, C; Aittomäki, K; Khan, S; et al. (NATURE PUBLISHING GROUP, 2017-05-01)PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with ... -
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
Painter, JN; O'Mara, TA; Morris, AP; Cheng, THT; Gorman, M; et al. (WILEY, 2018-05-01)Epidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis ... -
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer.
Painter, JN; O'Mara, TA; Marquart, L; Webb, PM; Attia, J; et al. (AMER ASSOC CANCER RESEARCH, 2016-11-01)BACKGROUND: The strongest known risk factor for endometrial cancer is obesity. To determine whether SNPs associated with increased body mass index (BMI) or waist-hip ratio (WHR) are associated with endometrial cancer risk, ... -
Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma.
Opstal-van Winden, AWJ; de Haan, HG; Hauptmann, M; Schmidt, MK; Broeks, A; et al. (AMER SOC HEMATOLOGY, 2019-03-07)Female Hodgkin lymphoma (HL) patients treated with chest radiotherapy (RT) have a very high risk of breast cancer. The contribution of genetic factors to this risk is unclear. We therefore examined 211 155 germline ... -
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 ... -
Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.
Guo, Y; Warren Andersen, S; Shu, X-O; Michailidou, K; Bolla, MK; et al. (PUBLIC LIBRARY SCIENCE, 2016-08-23)BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is ... -
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5.
Claus, EB; Cornish, AJ; Broderick, P; Schildkraut, JM; Dobbins, SE; et al. (OXFORD UNIV PRESS INC, 2018-10-09)BACKGROUND: Meningiomas are adult brain tumors originating in the meningeal coverings of the brain and spinal cord, with significant heritable basis. Genome-wide association studies (GWAS) have previously identified only ... -
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 and transcriptome studies identify target genes and risk loci for breast cancer.
Ferreira, MA; Gamazon, ER; Al-Ejeh, F; Aittomäki, K; Andrulis, IL; et al. (NATURE PORTFOLIO, 2019-04-15)Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue ... -
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 ...