TY - JOUR
T1 - ESR1/SYNE1 Polymorphism and Invasive Epithelial Ovarian Cancer Risk
T2 - An Ovarian Cancer Association Consortium Study
AU - Doherty, Jennifer A.
AU - Rossing, Mary Anne
AU - Cushing-Haugen, Kara L.
AU - Chen, Chu
AU - Van Den Berg, David J.
AU - Wu, Anna H.
AU - Pike, Malcolm C.
AU - Ness, Roberta B.
AU - Moysich, Kirsten
AU - Chenevix-Trench, Georgia
AU - Beesley, Jonathan
AU - Webb, Penelope M.
AU - Chang-Claude, Jenny
AU - Wang-Gohrke, Shan
AU - Goodman, Marc T.
AU - Lurie, Galina
AU - Thompson, Pamela J.
AU - Carney, Michael E.
AU - Hogdall, Estrid
AU - Kjaer, Susanne Kruger
AU - Hogdall, Claus
AU - Goode, Ellen L.
AU - Cunningham, Julie M.
AU - Fridley, Brooke L.
AU - Vierkant, Robert A.
AU - Berchuck, Andrew
AU - Moorman, Patricia G.
AU - Schildkraut, Joellen M.
AU - Palmieri, Rachel T.
AU - Cramer, Daniel W.
AU - Terry, Kathryn L.
AU - Yang, Hannah P.
AU - Garcia-Closas, Montserrat
AU - Chanock, Stephen
AU - Lissowska, Jolanta
AU - Song, Honglin
AU - Pharoah, Paul D.P.
AU - Shah, Mitul
AU - Perkins, Barbara
AU - McGuire, Valerie
AU - Whittemore, Alice S.
AU - Di Cioccio, Richard A.
AU - Gentry-Maharaj, Aleksandra
AU - Menon, Usha
AU - Gayther, Simon A.
AU - Ramus, Susan J.
AU - Ziogas, Argyrios
AU - Brewster, Wendy
AU - Anton-Culver, Hoda
AU - Pearce, Celeste Leigh
PY - 2010/1
Y1 - 2010/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/74549167142
U2 - 10.1158/1055-9965.EPI-09-0729
DO - 10.1158/1055-9965.EPI-09-0729
M3 - Article
C2 - 20056644
AN - SCOPUS:74549167142
SN - 1055-9965
VL - 19
SP - 245
EP - 250
JO - Cancer Epidemiology Biomarkers and Prevention
JF - Cancer Epidemiology Biomarkers and Prevention
IS - 1
ER -