Browsing ICR Divisions by author "Johnson, Nichola"
Now showing items 1-6 of 6
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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
(2011-12)Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined ... -
Combined genetic and splicing analysis of BRCA1 c. 594-2A \ensuremath> C; 641A \ensuremath> G highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
(2016-06)We confirm that BRCA1c.[594-2A \ensuremath> C;641A \ensuremath> G] should not be considered a high-risk pathogenic variant. Importantly, results from our detailed mRNA analysis suggest that BRCA-associated cancer risk is ... -
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers.
(2021-01-26)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 ... -
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?
(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.
(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 ... -
Rare germline copy number variants (CNVs) and breast cancer risk.
(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 ...
