ESR1/SYNE1 Polymorphism and Invasive Epithelial Ovarian Cancer Risk: An Ovarian Cancer Association Consortium Study

Jennifer A. Doherty, Mary Anne Rossing, Kara L. Cushing-Haugen, Chu Chen, David J. Van Den Berg, Anna H. Wu, Malcolm C. Pike, Roberta B. Ness, Kirsten Moysich, Georgia Chenevix-Trench, Jonathan Beesley, Penelope M. Webb, Jenny Chang-Claude, Shan Wang-Gohrke, Marc T. Goodman, Galina Lurie, Pamela J. Thompson, Michael E. Carney, Estrid Hogdall, Susanne Kruger KjaerClaus Hogdall, Ellen L. Goode, Julie M. Cunningham, Brooke L. Fridley, Robert A. Vierkant, Andrew Berchuck, Patricia G. Moorman, Joellen M. Schildkraut, Rachel T. Palmieri, Daniel W. Cramer, Kathryn L. Terry, Hannah P. Yang, Montserrat Garcia-Closas, Stephen Chanock, Jolanta Lissowska, Honglin Song, Paul D.P. Pharoah, Mitul Shah, Barbara Perkins, Valerie McGuire, Alice S. Whittemore, Richard A. Di Cioccio, Aleksandra Gentry-Maharaj, Usha Menon, Simon A. Gayther, Susan J. Ramus, Argyrios Ziogas, Wendy Brewster, Hoda Anton-Culver, Celeste Leigh Pearce

Research output: Contribution to journalArticlepeer-review

60 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)245-250
Number of pages6
JournalCancer Epidemiology Biomarkers and Prevention
Issue number1
StatePublished - Jan 2010

ASJC Scopus subject areas

  • Epidemiology
  • Oncology


Dive into the research topics of 'ESR1/SYNE1 Polymorphism and Invasive Epithelial Ovarian Cancer Risk: An Ovarian Cancer Association Consortium Study'. Together they form a unique fingerprint.

Cite this