Journal Article

Effect of <i>ATM, CHEK2</i> and <i>ERBB2</i> TAGSNPs and haplotypes on endometrial cancer risk

Kristjana Einarsdóttir, Keith Humphreys, Carine Bonnard, Yuqing Li, Yi Li, Kee Seng Chia, Edison T. Liu, Per Hall, Jianjun Liu and Sara Wedrén

in Human Molecular Genetics

Volume 16, issue 2, pages 154-164
Published in print January 2007 | ISSN: 0964-6906
Published online December 2006 | e-ISSN: 1460-2083 | DOI:
Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk

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Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case–control study including 705 cases and 1565 controls, we examined common variation in the ATM, CHEK2 and ERBB2 genes in relation to endometrial cancer risk overall, restricted to tumours of certain characteristics or stratified by various endometrial cancer risk factors. We genotyped a large number of single-nucleotide polymorphisms (SNPs) in the genes and selected seven haplotype-tagging SNPs (tagSNPs) in ATM, six tagSNPs in CHEK2 and seven tagSNPs in ERBB2 that could predict common variants and haplotypes (frequency ≥0.03) in each gene with R2 ≥ 0.8. We included the tagSNPs or their haplotypes as explanatory variables in unconditional logistic regression models adjusted for age. Our results indicated an increased risk of developing endometroid endometrial cancer for homozygous carriers of the rare allele (AA) of a tagSNP (rs4987886) in CHEK2 (P = 0.005) when contrasted with GG carriers. We also found a decreased endometrial cancer risk among non-smoking carriers of a haplotype in ATM (P = 0.0007) and among carriers of a haplotype in CHEK2, who had experienced menopause below 49 years of age (P = 0.0009) compared with non-carriers of these haplotypes. We found no effect of genetic variation in ERBB2 on endometrial cancer risk. In conclusion, it is possible that common variants in the ATM and CHEK2 genes, in interaction with oestrogen-related exposures, are involved in endometrial cancer aetiology.

Journal Article.  6876 words. 

Subjects: Genetics and Genomics

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