Association of ESR1 gene tagging SNPs with breast cancer risk
Copyright policy )Association of ESR1 gene tagging SNPs with breast cancer risk
We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.
- University of London United Kingdom
- Leiden University Netherlands
- University of Melbourne Australia
- University of Oslo Norway
- University of Erlangen-Nuremberg Germany
270200 Genetics, BBCS, USRTS, kConFab and the AOCS Management Group, Medical and Health Sciences, TWBCS, 2.1 Biological and endogenous factors, BBCC, Estrogen-receptor gene, RNA, Neoplasm, Aetiology, NBCS, BCAC, Cancer, Genetics & Heredity, MEC, ORIGO, HEBCS, Single Nucleotide, ABCS, GC-HBOC, Biological Sciences, HABCS, Female, MARIE, Breast Neoplasms; Estrogen Receptor alpha; Female; Haplotypes; Humans; Neoplasm Staging; Polymorphism, Single Nucleotide; RNA, Neoplasm; Genetic Predisposition to Disease; Molecular Biology; Genetics; Genetics (clinical), CGPS, for MCBCS, ABCFS, Breast Neoplasms, 270100 Biochemistry and Cell Biology, Polymorphism, Single Nucleotide, C1, Clinical Research, NHS, SEARCH, UCIBCS, Breast Cancer, Genetics, SEBCS, Humans, Genetic Predisposition to Disease, Polymorphism, PBCS, Neoplasm Staging, Prevention, KBCS, Estrogen Receptor alpha, GENICA, Haplotypes, RNA, Neoplasm, CNIO-BCS, MCCS, EPIC, SASBAC, KARBAC
270200 Genetics, BBCS, USRTS, kConFab and the AOCS Management Group, Medical and Health Sciences, TWBCS, 2.1 Biological and endogenous factors, BBCC, Estrogen-receptor gene, RNA, Neoplasm, Aetiology, NBCS, BCAC, Cancer, Genetics & Heredity, MEC, ORIGO, HEBCS, Single Nucleotide, ABCS, GC-HBOC, Biological Sciences, HABCS, Female, MARIE, Breast Neoplasms; Estrogen Receptor alpha; Female; Haplotypes; Humans; Neoplasm Staging; Polymorphism, Single Nucleotide; RNA, Neoplasm; Genetic Predisposition to Disease; Molecular Biology; Genetics; Genetics (clinical), CGPS, for MCBCS, ABCFS, Breast Neoplasms, 270100 Biochemistry and Cell Biology, Polymorphism, Single Nucleotide, C1, Clinical Research, NHS, SEARCH, UCIBCS, Breast Cancer, Genetics, SEBCS, Humans, Genetic Predisposition to Disease, Polymorphism, PBCS, Neoplasm Staging, Prevention, KBCS, Estrogen Receptor alpha, GENICA, Haplotypes, RNA, Neoplasm, CNIO-BCS, MCCS, EPIC, SASBAC, KARBAC
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