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Human Molecular Genetics Advance Access originally published online on December 12, 2006
Human Molecular Genetics 2007 16(2):154-164; doi:10.1093/hmg/ddl451
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© 2006 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk

Kristjana Einarsdóttir1,*, Keith Humphreys1, Carine Bonnard2, Yuqing Li2, Yi Li3, Kee Seng Chia4, Edison T. Liu2, Per Hall1, Jianjun Liu2 and Sara Wedrén1

1 Department of Medical Epidemiology and Biostatistics, Karolinska Institute, 171 77 Stockholm, Sweden, 2 Population Genetics, 3 Information and Mathematical Sciences, Genome Institute of Singapore, Singapore 138672, Singapore and 4 Center for Molecular Epidemiology, Department of Community, Occupational and Family Medicine, National University of Singapore, Singapore 117597, Singapore

* To whom corresponding should be addressed at: Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Box 281, Stockholm, Sweden. Tel: +46 8 524 86100; Fax: +46 8 314975; Email: Kristjana.Einarsdottir{at}ki.se

Received October 12, 2006; Accepted November 24, 2006

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.


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