ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: An Ovarian Cancer Association Consortium Study

Doherty, Jennifer A., Rossing, Mary Anne, Cushing-Haugen, Kara L., Chen, Chu, Van Den Berg, David J., Wu, Anna H., Pike, Malcolm C., Ness, Roberta B., Moysich, Kirsten, Chenevix-Trench, Georgia, Beesley, Jonathan, Webb, Penelope M., Chang-Claude, Jenny, Wang-Gohrke, Shan, Goodman, Marc T., Lurie, Galina, Thompson, Pamela J., Carney, Michael E., Hogdall, Estrid, Kruger Kjaer, Susanne, Hogdall, Claus, Goode, Ellen L., Cunningham, Julie M., Fridley, Brooke L., Vierkant, Robert A., Berchuck, Andrew, Moorman, Patricia G., Schildkraut, Joellen M., Palmieri, Rachel T., Cramer, Daniel W., Terry, Kathryn L., Yang, Hannah P., Garcia-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Song, Honglin, Pharoah, Paul D.P., Shah, Mitul, Perkins, Barbara, McGuire, Valerie, Whittemore, Alice S., Di Cioccio, Richard A., Gentry-Maharaj, Aleksandra, Menon, Usha, Gayther, Simon A., Ramus, Susan J., Ziogas, Argyrios, Brewster, Wendy, Anton-Culver, Hoda, The Australian Ovarian Cancer Study Management Group, The Australian Cancer Study (Ovarian Cancer) and Leigh Pearce, Celeste (2010) ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: An Ovarian Cancer Association Consortium Study. Cancer Epidemiology, Biomarkers & Prevention, 19 1: 245-250. doi:10.1158/1055-9965.EPI-09-0729

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Author Doherty, Jennifer A.
Rossing, Mary Anne
Cushing-Haugen, Kara L.
Chen, Chu
Van Den Berg, David J.
Wu, Anna H.
Pike, Malcolm C.
Ness, Roberta B.
Moysich, Kirsten
Chenevix-Trench, Georgia
Beesley, Jonathan
Webb, Penelope M.
Chang-Claude, Jenny
Wang-Gohrke, Shan
Goodman, Marc T.
Lurie, Galina
Thompson, Pamela J.
Carney, Michael E.
Hogdall, Estrid
Kruger Kjaer, Susanne
Hogdall, Claus
Goode, Ellen L.
Cunningham, Julie M.
Fridley, Brooke L.
Vierkant, Robert A.
Berchuck, Andrew
Moorman, Patricia G.
Schildkraut, Joellen M.
Palmieri, Rachel T.
Cramer, Daniel W.
Terry, Kathryn L.
Yang, Hannah P.
Garcia-Closas, Montserrat
Chanock, Stephen
Lissowska, Jolanta
Song, Honglin
Pharoah, Paul D.P.
Shah, Mitul
Perkins, Barbara
McGuire, Valerie
Whittemore, Alice S.
Di Cioccio, Richard A.
Gentry-Maharaj, Aleksandra
Menon, Usha
Gayther, Simon A.
Ramus, Susan J.
Ziogas, Argyrios
Brewster, Wendy
Anton-Culver, Hoda
The Australian Ovarian Cancer Study Management Group
The Australian Cancer Study (Ovarian Cancer)
Leigh Pearce, Celeste
Title ESR1/SYNE1 polymorphism and invasive epithelial ovarian cancer risk: An Ovarian Cancer Association Consortium Study
Journal name Cancer Epidemiology, Biomarkers & Prevention   Check publisher's open access policy
ISSN 1055-9965
Publication date 2010-01-01
Sub-type Article (original research)
DOI 10.1158/1055-9965.EPI-09-0729
Open Access Status Not yet assessed
Volume 19
Issue 1
Start page 245
End page 250
Total pages 6
Place of publication Philadelphia, PA, U.S.A.
Publisher American Association for Cancer Research
Language eng
Formatted abstract
We genotyped 13 single nucleotide polymorphisms (SNPs) in the estrogen receptor alpha gene (ESR1) region in three population-based case-control studies of epithelial ovarian cancer conducted in the United States, comprising a total of 1,128 and 1,866 non-Hispanic white invasive cases and controls, respectively. A SNP 19 kb downstream of ESR1 (rs2295190, G-to-T change) was associated with invasive ovarian cancer risk, with a per-T-allele odds ratio (OR) of 1.24 [95% confidence interval (CI), 1.06-1.44, P = 0.006]. rs2295190 is a nonsynonymous coding SNP in a neighboring gene called spectrin repeat containing, nuclear envelope 1 (SYNE1), which is involved in nuclear organization and structural integrity, function of the Golgi apparatus, and cytokinesis. An isoform encoded by SYNE1 has been reported to be downregulated in ovarian and other cancers. rs2295190 was genotyped in an additional 12 studies through the Ovarian Cancer Association Consortium, with 5,279 invasive epithelial cases and 7,450 controls. The per-T-allele OR for this 12-study set was 1.09 (95% CI, 1.02-1.17; P = 0.017). Results for the serous subtype in the 15 combined studies were similar to those overall (n = 3,545; OR, 1.09; 95% CI, 1.01-1.18; P = 0.025), and our findings were strongest for the mucinous subtype (n = 447; OR, 1.32; 95% CI, 1.11-1.58; P = 0.002). No association was observed for the endometrioid subtype. In an additional analysis of 1,459 borderline ovarian cancer cases and 7,370 controls, rs2295190 was not associated with risk. These data provide suggestive evidence that the rs2295190 T allele, or another allele in linkage disequilibrium with it, may be associated with increased risk of invasive ovarian cancer.
©2010 AACR.
Keyword Genome-wide association
Candidate snps
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes The author Leigh Pearce, Celeste wrote on behalf of the Ovarian Cancer Association Consortium (OCAC).

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
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Created: Fri, 01 Apr 2011, 00:51:28 EST by Debbie Banks on behalf of School of Medicine