Genetic variation in the genome-wide predicted estrogen response element-related sequences is associated with breast cancer development View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-01-31

AUTHORS

Jyh-Cherng Yu, Chia-Ni Hsiung, Huan-Ming Hsu, Bo-Ying Bao, Shou-Tung Chen, Giu-Cheng Hsu, Wen-Cheng Chou, Ling-Yueh Hu, Shian-Ling Ding, Chun-Wen Cheng, Pei-Ei Wu, Chen-Yang Shen

ABSTRACT

INTRODUCTION: Estrogen forms a complex with the estrogen receptor (ER) that binds to estrogen response elements (EREs) in the promoter region of estrogen-responsive genes, regulates their transcription, and consequently mediates physiological or tumorigenic effects. Thus, sequence variants in EREs have the potential to affect the estrogen-ER-ERE interaction. In this study, we examined the hypothesis that genetic variations of EREs are associated with breast cancer development. METHODS: This case-control study involved 815 patients of Asian descent with incident breast cancer and 821 healthy female controls. A total of 13,737 ERE sites in the whole genome predicted by a genome-wide computational algorithm were blasted with single-nucleotide polymorphism (SNP) sequences. Twenty-one SNPs located within 2,000 bp upstream or within introns 1 and 2 of putative genes and with a minor allele frequency greater than 5% were identified and genotyped. Frequencies of SNPs were compared between cases and controls to identify SNPs associated with cancer susceptibility. RESULTS: A significant combined effect of rs12539530, an ERE SNP in intron 2 of NRCAM which codes for a cell adhesion molecule, and SNPs of ESR1, the gene coding for ER, on breast cancer risk was found. Interestingly, this combined effect was more significant in women who had experienced a longer period of lifetime estrogen exposure, supporting a hormonal etiology of this SNP in breast tumorigenesis. CONCLUSIONS: Our findings provide support for a role of genetic variation in ERE-ESR1 in determining susceptibility of breast cancer development. More... »

PAGES

r13-r13

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/bcr2821

DOI

http://dx.doi.org/10.1186/bcr2821

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1025466542

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21281495


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49 breast cancer risk
50 breast tumorigenesis
51 cancer
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54 cancer susceptibility
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57 cell adhesion molecule
58 combined effect
59 complexes
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61 control
62 descent
63 development
64 effect
65 element-related sequences
66 elements
67 estrogen
68 estrogen exposure
69 estrogen receptor
70 estrogen response element
71 estrogen response element-related sequences
72 estrogen-ER
73 estrogen-responsive genes
74 etiology
75 exposure
76 female controls
77 findings
78 frequency
79 frequency of SNPs
80 genes
81 genetic variation
82 genome
83 genome-wide computational algorithm
84 healthy female controls
85 hormonal etiology
86 hypothesis
87 incident breast cancer
88 interaction
89 intron 1
90 intron 2
91 lifetime estrogen exposure
92 long period
93 minor allele frequency
94 molecules
95 patients
96 period
97 polymorphism sequences
98 potential
99 promoter region
100 putative genes
101 receptors
102 region
103 response element
104 response element-related sequences
105 risk
106 role
107 rs12539530
108 sequence
109 sequence variants
110 significant combined effect
111 single nucleotide polymorphism sequences
112 sites
113 study
114 support
115 susceptibility
116 total
117 transcription
118 tumorigenesis
119 tumorigenic effects
120 variants
121 variation
122 whole genome
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