CHEK2,MGMT,SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk

O'Mara, Tracy A., Ferguson, Kaltin, Fahey, Paul, Marquart, Louise, Yang, Hannah P., Lissowska, Jolanta, Chanock, Stephen, Garcia-Closas, Montserrat, Thompson, Deborah J., Healey, Catherine S., Dunning, Alison M., Easton, Douglas F., ANECS, Webb, Penelope M., Spurdle, Amanda B. and Obermair, Andreas (2011) CHEK2,MGMT,SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk. Twin Research and Human Genetics, 14 4: 328-332. doi:10.1375/twin.14.4.328

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Author O'Mara, Tracy A.
Ferguson, Kaltin
Fahey, Paul
Marquart, Louise
Yang, Hannah P.
Lissowska, Jolanta
Chanock, Stephen
Garcia-Closas, Montserrat
Thompson, Deborah J.
Healey, Catherine S.
Dunning, Alison M.
Easton, Douglas F.
ANECS
Webb, Penelope M.
Spurdle, Amanda B.
Obermair, Andreas
Title CHEK2,MGMT,SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk
Formatted title CHEK2,MGMT,SULT1E1 and SULT1A1 polymorphisms and endometrial cancer risk
Journal name Twin Research and Human Genetics   Check publisher's open access policy
ISSN 1832-4274
1839-2628
Publication date 2011-08
Sub-type Article (original research)
DOI 10.1375/twin.14.4.328
Volume 14
Issue 4
Start page 328
End page 332
Total pages 5
Place of publication Bowen Hills, QLD, Australia
Publisher Australian Academic Press
Collection year 2012
Language eng
Abstract Several single nucleotide polymorphisms (SNPs) in candidate genes of DNA repair and hormone pathways have been reported to be associated with endometrial cancer risk. We sought to confirm these associations in two endometrial cancer case-control sample sets and used additional data from an existing genome-wide association study to prioritize an additional SNP for further study. Five SNPs from the CHEK2, MGMT, SULT1E1 and SULT1A1 genes, genotyped in a total of 1597 cases and 1507 controls from two case-control studies, the Australian National Endometrial Cancer Study and the Polish Endometral Cancer Study, were assessed for association with endometrial cancer risk using logistic regression analysis. Imputed data was drawn for CHEK2 rs8135424 for 666 cases from the Study of Epidemiology and Risk factors in Cancer Heredity study and 5190 controls from the Wellcome Trust Case Control Consortium. We observed no association between SNPs in the MGMT, SULT1E1 and SULT1A1 genes and endometrial cancer risk. The A allele of the rs8135424 CHEK2 SNP was associated with decreased risk of endometrial cancer (adjusted per-allele OR 0.83; 95%CI 0.70-0.98; p = .03) however this finding was opposite to that previously published. Imputed data for CHEK2 rs8135424 supported the direction of effect reported in this study (OR 0.85; 95% CI 0.65–1.10). Previously reported endometrial cancer risk associations with SNPs from in genes involved in estrogen metabolism and DNA repair were not replicated in our larger study population. This study highlights the need for replication of candidate gene SNP studies using large sample groups, to confirm risk associations and better prioritize downstream studies to assess the causal relationship between genetic variants and cancer risk. Our findings suggest that the CHEK2 SNP rs8135424 be prioritized for further study as a genetic factor associated with risk of endometrial cancer.
Keyword Endometrial cancer
Single nucleotide polymorphism
CHEK2
MGMT
SULT1E1
SULT1A1
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Medicine Publications
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