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Common genetic variability in ESR1 and EGF in relation to endometrial cancer risk and survival.

Authors: Einarsdóttir, K  Darabi, H  Czene, K  Li, Y  Low, Y L  Li, Y Q  Bonnard, C  Wedrén, S  Liu, E T  Hall, P  Liu, J  Humphreys, K 
Citation: Einarsdóttir K, etal., Br J Cancer. 2009 Apr 21;100(8):1358-64. doi: 10.1038/sj.bjc.6604984. Epub 2009 Mar 24.
Pubmed: (View Article at PubMed) PMID:19319135
DOI: Full-text: DOI:10.1038/sj.bjc.6604984

We investigated common genetic variation in the entire ESR1 and EGF genes in relation to endometrial cancer risk, myometrial invasion and endometrial cancer survival. We genotyped a dense set of single-nucleotide polymorphisms (SNPs) in both genes and selected haplotype tagging SNPs (tagSNPs). The tagSNPs were genotyped in 713 Swedish endometrial cancer cases and 1567 population controls and the results incorporated into logistic regression and Cox proportional hazards models. We found five adjacent tagSNPs covering a region of 15 kb at the 5' end of ESR1 that decreased the endometrial cancer risk. The ESR1 variants did not, however, seem to affect myometrial invasion or endometrial cancer survival. For the EGF gene, no association emerged between common genetic variants and endometrial cancer risk or myometrial invasion, but we found a five-tagSNP region that covered 51 kb at the 5' end of the gene where all five tagSNPs seemed to decrease the risk of dying from endometrial cancer. One of the five tagSNPs in this region was in strong linkage disequilibrium (LD) with the untranslated A61G (rs4444903) EGF variant, earlier shown to be associated with risk for other forms of cancer.

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RGD Object Information
RGD ID: 13673915
Created: 2018-07-06
Species: All species
Last Modified: 2018-07-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.