Browsing ICR Divisions by author "Johnson, Nichola"
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Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
Baxter, JS; Leavy, OC; Dryden, NH; Maguire, S; Johnson, N; et al. (NATURE PUBLISHING GROUP, 2018-03-12)Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease risk requires identification ... -
CYP3A7*1C allele is associated with reduced levels of 2-hydroxylation pathway oestrogen metabolites.
Sood, D; Johnson, N; Jain, P; Siskos, AP; Bennett, M; et al. (NATURE PUBLISHING GROUP, 2017-01-31)BACKGROUND: Endogenous sex hormones are well-established risk factors for breast cancer; the contribution of specific oestrogen metabolites (EMs) and/or ratios of specific EMs is less clear. We have previously identified ... -
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
Johnson, N; Maguire, S; Morra, A; Kapoor, PM; Tomczyk, K; et al. (SPRINGERNATURE, 2021-02-16)BACKGROUND: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary ... -
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 ... -
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 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 ... -
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
Southey, MC; Goldgar, DE; Winqvist, R; Pylkäs, K; Couch, F; et al. (BMJ PUBLISHING GROUP, 2016-12-01)BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ... -
Rare germline copy number variants (CNVs) and breast cancer risk.
Dennis, J; Tyrer, JP; Walker, LC; Michailidou, K; Dorling, L; et al. (NATURE PORTFOLIO, 2022-01-18)Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding ...