Browsing Genetics and Epidemiology by author "Schoemaker, Minouk"
Now showing items 21-40 of 64
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Diagnostic radiological examinations and risk of intracranial tumours in adults-findings from the Interphone Study.
Auvinen, A; Cardis, E; Blettner, M; Moissonnier, M; Sadetzki, S; et al. (OXFORD UNIV PRESS, 2022-05-09)BACKGROUND: Exposure to high doses of ionizing radiation is among the few well-established brain tumour risk factors. We used data from the Interphone study to evaluate the effects of exposure to low-dose radiation from ... -
DNA methylation of the long intergenic noncoding RNA 299 gene in triple-negative breast cancer: results from a prospective study.
Manoochehri, M; Jones, M; Tomczyk, K; Fletcher, O; Schoemaker, MJ; et al. (NATURE PORTFOLIO, 2020-07-16)Triple-negative breast cancer (TNBC) is an aggressive breast cancer subtype associated with a high rate of recurrence and poor prognosis. Recently we identified a hypermethylation in the long noncoding RNA 299 (LINC00299) ... -
Domestic light at night and breast cancer risk: a prospective analysis of 105 000 UK women in the Generations Study.
Johns, LE; Jones, ME; Schoemaker, MJ; McFadden, E; Ashworth, A; et al. (NATURE PUBLISHING GROUP, 2018-02-20)BACKGROUND: Circadian disruption caused by exposure to light at night (LAN) has been proposed as a risk factor for breast cancer and a reason for secular increases in incidence. Studies to date have largely been ecological ... -
E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.
Horne, HN; Oh, H; Sherman, ME; Palakal, M; Hewitt, SM; et al. (NATURE PORTFOLIO, 2018-04-26)E-cadherin (CDH1) is a putative tumor suppressor gene implicated in breast carcinogenesis. Yet, whether risk factors or survival differ by E-cadherin tumor expression is unclear. We evaluated E-cadherin tumor immunohistochemistry ... -
Epigenome-wide association study for lifetime estrogen exposure identifies an epigenetic signature associated with breast cancer risk.
Johansson, A; Palli, D; Masala, G; Grioni, S; Agnoli, C; et al. (BMC, 2019-04-30)BACKGROUND: It is well established that estrogens and other hormonal factors influence breast cancer susceptibility. We hypothesized that a woman's total lifetime estrogen exposure accumulates changes in DNA methylation, ... -
Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation.
Abubakar, M; Chang-Claude, J; Ali, HR; Chatterjee, N; Coulson, P; et al. (WILEY, 2018-08-15)Limited epidemiological evidence suggests that the etiology of hormone receptor positive (HR+) breast cancer may differ by levels of histologic grade and proliferation. We pooled risk factor and pathology data on 5,905 HR+ ... -
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation.
Ghoussaini, M; French, JD; Michailidou, K; Nord, S; Beesley, J; et al. (CELL PRESS, 2016-10-06)Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 ... -
Exposure to loud noise and risk of vestibular schwannoma: results from the INTERPHONE international case‒control study.
Deltour, I; Schlehofer, B; Massardier-Pilonchéry, A; Schlaefer, K; Armstrong, B; et al. (SCANDINAVIAN JOURNAL WORK ENVIRONMENT & HEALTH, 2018-11-05)Objective Studies of loud noise exposure and vestibular schwannomas (VS) have shown conflicting results. The population-based INTERPHONE case‒control study was conducted in 13 countries during 2000-2004. In this paper, we ... -
Family history and risk of breast cancer: an analysis accounting for family structure.
Brewer, HR; Jones, ME; Schoemaker, MJ; Ashworth, A; Swerdlow, AJ (SPRINGER, 2017-08-01)PURPOSE: Family history is an important risk factor for breast cancer incidence, but the parameters conventionally used to categorize it are based solely on numbers and/or ages of breast cancer cases in the family and take ... -
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 ... -
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), ... -
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 ... -
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 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 study of anti-Müllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan.
Ruth, KS; Soares, ALG; Borges, M-C; Eliassen, AH; Hankinson, SE; et al. (OXFORD UNIV PRESS, 2019-04-15)Anti-Müllerian hormone (AMH) is required for sexual differentiation in the fetus, and in adult females AMH is produced by growing ovarian follicles. Consequently, AMH levels are correlated with ovarian reserve, declining ... -
Genome-wide association study of germline variants and breast cancer-specific mortality.
Escala-Garcia, M; Guo, Q; Dörk, T; Canisius, S; Keeman, R; et al. (NATURE PUBLISHING GROUP, 2019-03-19)BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models ... -
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
Melin, BS; Barnholtz-Sloan, JS; Wrensch, MR; Johansen, C; Il'yasova, D; et al. (NATURE PORTFOLIO, 2017-05-01)Genome-wide association studies (GWAS) have transformed our understanding of glioma susceptibility, but individual studies have had limited power to identify risk loci. We performed a meta-analysis of existing GWAS and two ... -
Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.
Kar, SP; Beesley, J; Amin Al Olama, A; Michailidou, K; Tyrer, J; et al. (AMER ASSOC CANCER RESEARCH, 2016-09-01)UNLABELLED: Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining ... -
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 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Phelan, CM; Kuchenbaecker, KB; Tyrer, JP; Kar, SP; Lawrenson, K; et al. (NATURE PORTFOLIO, 2017-05-01)To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified ...