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


Journal Article

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.

Full Text

Cited Authors

  • Einarsdóttir, K; Darabi, H; Czene, K; Li, Y; Low, YL; Li, YQ; Bonnard, C; Wedrén, S; Liu, ET; Hall, P; Liu, J; Humphreys, K

Published Date

  • April 2009

Published In

Volume / Issue

  • 100 / 8

Start / End Page

  • 1358 - 1364

PubMed ID

  • 19319135

Pubmed Central ID

  • 19319135

Electronic International Standard Serial Number (EISSN)

  • 1532-1827

International Standard Serial Number (ISSN)

  • 0007-0920

Digital Object Identifier (DOI)

  • 10.1038/sj.bjc.6604984


  • eng