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

被引：74

作者：

Doherty, Jennifer A. ^{[1
]}

Rossing, Mary Anne ^{[1
]}

Cushing-Haugen, Kara L. ^{[1
]}

Chen, Chu ^{[1
]}

Van Den Berg, David J. ^{[2
]}

Wu, Anna H. ^{[2
]}

Pike, Malcolm C. ^{[2
]}

Ness, Roberta B. ^{[3
]}

Moysich, Kirsten ^{[4
]}

Chenevix-Trench, Georgia ^{[5
]}

Beesley, Jonathan ^{[5
]}

Webb, Penelope M. ^{[5
]}

Chang-Claude, Jenny ^{[6
]}

Wang-Gohrke, Shan ^{[7
]}

Goodman, Marc T. ^{[8
]}

Lurie, Galina ^{[8
]}

Thompson, Pamela J. ^{[8
]}

Carney, Michael E. ^{[8
]}

Hogdall, Estrid

Kjaer, Susanne Kruger

Hogdall, Claus ^{[9
]}

Goode, Ellen L. ^{[10
]}

Cunningham, Julie M. ^{[10
]}

Fridley, Brooke L. ^{[10
]}

Vierkant, Robert A. ^{[10
]}

Berchuck, Andrew ^{[11
]}

Moorman, Patricia G. ^{[11
]}

Schildkraut, Joellen M. ^{[11
]}

Palmieri, Rachel T. ^{[12
]}

Cramer, Daniel W. ^{[13
]}

Terry, Kathryn L. ^{[13
]}

Yang, Hannah P. ^{[14
]}

Garcia-Closas, Montserrat ^{[14
]}

Chanock, Stephen ^{[14
]}

Lissowska, Jolanta ^{[15
]}

Song, Honglin ^{[16
]}

Pharoah, Paul D. P. ^{[16
]}

Shah, Mitul ^{[16
]}

Perkins, Barbara ^{[16
]}

McGuire, Valerie ^{[17
]}

Whittemore, Alice S. ^{[17
]}

Di Cioccio, Richard A. ^{[4
]}

Gentry-Maharaj, Aleksandra ^{[18
]}

Menon, Usha ^{[18
]}

Gayther, Simon A. ^{[18
]}

Ramus, Susan J. ^{[18
]}

Ziogas, Argyrios ^{[19
]}

Brewster, Wendy ^{[19
]}

Anton-Culver, Hoda ^{[19
]}

Pearce, Celeste Leigh ^{[2
]}

机构：

[1] Fred Hutchinson Canc Res Ctr, Program Epidemiol, Seattle, WA 98109 USA

[2] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[3] Univ Texas Houston, Sch Publ Hlth, Houston, TX USA

[4] Roswell Pk Canc Inst, Buffalo, NY 14263 USA

[5] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[6] German Canc Res Ctr, Div Canc Epidemiol, D-6900 Heidelberg, Germany

[7] Univ Ulm, Dept Obstet & Gynecol, Ulm, Germany

[8] Univ Hawaii, Canc Res Ctr, Honolulu, HI 96813 USA

[9] Rigshosp, Juliane Marie Ctr, Dept Gynecol & Obstet, DK-2100 Copenhagen, Denmark

[10] Mayo Clin, Coll Med, Rochester, MN USA

[11] Duke Univ, Med Ctr, Durham, NC USA

[12] Univ N Carolina, Dept Epidemiol, Gillings Sch Global Publ Hlth, Chapel Hill, NC USA

[13] Brigham & Womens Hosp, Obstet & Gynecol Epidemiol Ctr, Boston, MA 02115 USA

[14] NCI, Div Canc Epidemiol & Genet, Rockville, MD USA

[15] M Sklodowska Curie Inst Oncol & Canc Ctr, Dept Canc Epidemiol & Prevent, Warsaw, Poland

[16] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Cambridge, England

[17] Stanford Univ, Dept Hlth Res & Policy, Sch Med, Stanford, CA 94305 USA

[18] UCL, Dept Gynaecol Oncol, EGA Inst Womens Hlth, London, England

[19] Univ Calif Irvine, Sch Med, Dept Epidemiol, Irvine, CA 92717 USA

[20] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia

来源：

CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION | 2010年 / 19卷 / 01期

基金：

英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCUS; CANDIDATE SNPS; BREAST; MUTATIONS; SYNE-1;

D O I：

10.1158/1055-9965.EPI-09-0729

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 = 0.0061. rs2295190 is a nonsynonymous coding SNP in a neighboring gene called spectrin repeat containing, nuclear envelope I (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 down-regulated 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% Cl, 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. Cancer Epidemiol Biomarkers Prev; 190); 245-50. (C) 2010 AACR.

引用

页码：245 / 250

页数：6

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