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A candidate CpG SNP approach identifies a breast cancer associated ESR1-SNP.

Harlid, Sophia LU ; Ivarsson, Malin I L; Butt, Salma LU ; Hussain, Shehnaz; Grzybowska, Ewa; Eyfjörd, Jorunn Erla; Lenner, Per; Försti, Asta LU ; Hemminki, Kari LU and Manjer, Jonas LU , et al. (2011) In International Journal of Cancer Dec. p.1689-1698
Abstract
Altered DNA methylation is often seen in malignant cells, potentially contributing to carcinogenesis by suppressing gene expression. We hypothesized that heritable methylation potential might be a risk factor for breast cancer and evaluated possible association with breast cancer for single nucleotide polymorphisms (SNPs) either involving CpG sequences in extended 5'- regulatory regions of candidate genes (ESR1, ESR2, PGR and SHBG) or CpG and missense coding SNPs in genes involved in methylation (MBD1, MECP2, DNMT1, MGMT, MTHFR, MTR, MTRR, MTHFD1, MTHFD2, BHMT, DCTD and SLC19A1). Genome-wide searches for genetic risk factors for breast cancers have in general not investigated these SNPs, because of low minor allele frequency or weak... (More)
Altered DNA methylation is often seen in malignant cells, potentially contributing to carcinogenesis by suppressing gene expression. We hypothesized that heritable methylation potential might be a risk factor for breast cancer and evaluated possible association with breast cancer for single nucleotide polymorphisms (SNPs) either involving CpG sequences in extended 5'- regulatory regions of candidate genes (ESR1, ESR2, PGR and SHBG) or CpG and missense coding SNPs in genes involved in methylation (MBD1, MECP2, DNMT1, MGMT, MTHFR, MTR, MTRR, MTHFD1, MTHFD2, BHMT, DCTD and SLC19A1). Genome-wide searches for genetic risk factors for breast cancers have in general not investigated these SNPs, because of low minor allele frequency or weak haplotype associations.Genotyping was performed using Mass spectrometry-Maldi-Tof in a screening panel of 538 cases and 1067 controls. Potential association to breast cancer was identified for 15 SNPs and one of these SNPs (rs7766585 in ESR1) was found to associate strongly with breast cancer, OR 1.30 (95% CI 1.17-1.45; p-value 2.1x10(-6)), when tested in a verification panel consisting of 3211 unique breast cancer cases and 4223 unique controls from five European biobank cohorts.In conclusion, a candidate gene search strategy focusing on methylation-related SNPs did identify a SNP that associated with breast cancer at high significance. (Less)
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International Journal of Cancer
volume
Dec
pages
1689 - 1698
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John Wiley & Sons
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  • wos:000293246600015
  • pmid:21105050
  • scopus:79960925546
ISSN
0020-7136
DOI
10.1002/ijc.25786
language
English
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yes
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d47cb72c-c7ea-4147-9865-5beb5db8cc05 (old id 1731574)
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http://www.ncbi.nlm.nih.gov/pubmed/21105050?dopt=Abstract
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2010-12-01 13:54:38
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@article{d47cb72c-c7ea-4147-9865-5beb5db8cc05,
  abstract     = {Altered DNA methylation is often seen in malignant cells, potentially contributing to carcinogenesis by suppressing gene expression. We hypothesized that heritable methylation potential might be a risk factor for breast cancer and evaluated possible association with breast cancer for single nucleotide polymorphisms (SNPs) either involving CpG sequences in extended 5'- regulatory regions of candidate genes (ESR1, ESR2, PGR and SHBG) or CpG and missense coding SNPs in genes involved in methylation (MBD1, MECP2, DNMT1, MGMT, MTHFR, MTR, MTRR, MTHFD1, MTHFD2, BHMT, DCTD and SLC19A1). Genome-wide searches for genetic risk factors for breast cancers have in general not investigated these SNPs, because of low minor allele frequency or weak haplotype associations.Genotyping was performed using Mass spectrometry-Maldi-Tof in a screening panel of 538 cases and 1067 controls. Potential association to breast cancer was identified for 15 SNPs and one of these SNPs (rs7766585 in ESR1) was found to associate strongly with breast cancer, OR 1.30 (95% CI 1.17-1.45; p-value 2.1x10(-6)), when tested in a verification panel consisting of 3211 unique breast cancer cases and 4223 unique controls from five European biobank cohorts.In conclusion, a candidate gene search strategy focusing on methylation-related SNPs did identify a SNP that associated with breast cancer at high significance.},
  author       = {Harlid, Sophia and Ivarsson, Malin I L and Butt, Salma and Hussain, Shehnaz and Grzybowska, Ewa and Eyfjörd, Jorunn Erla and Lenner, Per and Försti, Asta and Hemminki, Kari and Manjer, Jonas and Dillner, Joakim and Carlson, Joyce},
  issn         = {0020-7136},
  language     = {eng},
  pages        = {1689--1698},
  publisher    = {John Wiley & Sons},
  series       = {International Journal of Cancer},
  title        = {A candidate CpG SNP approach identifies a breast cancer associated ESR1-SNP.},
  url          = {http://dx.doi.org/10.1002/ijc.25786},
  volume       = {Dec},
  year         = {2011},
}