Browsing Genetics and Epidemiology by author "Johnson, Nichola"
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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 ... -
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 ...