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Oncotarget | July 6, 2016 | Volume: 7 | Issue: 43 | Pages: 69097-69110
The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients
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Oncotarget | September 15, 2015 | Volume: 6 | Issue: 10 | Pages: 7390-7407
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
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Human Molecular Genetics | August 29, 2014 | Volume: 24 | Issue: 1 | Pages: 285-298
ESR1/SYNE1 Polymorphism and Invasive Epithelial Ovarian Cancer Risk: An Ovarian Cancer Association Consortium Study
Rossing, Mary Anne, Cushing‐Haugen, Kara L. , Chen, Chu , Berg, David J. Van Den, Wu, Anna H. , Pike, Malcolm C. , Ness, Roberta B., Moysich, Kirsten B., 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., Høgdall, Estrid , Kjær, Susanne K. , Høgdall, Claus , Goode, Ellen L. , Cunningham, Julie M. , Vierkant, Robert A. , Moorman, Patricia G. , Schildkraut, Joellen M. , Palmieri, Rachel T., Terry, Kathryn L. , García‐Closas, Montserrat , Lissowska, Jolanta , Song, Honglin , Shah, Mitul , Perkins, Barbara, McGuire, Valerie , Whittemore, Alice S. , Cioccio, Richard A. Di, Menon, Usha , Gayther, Simon A. , Ramus, Susan J. , Group, The Australian Ovarian Cancer Study Management, Cancer), The Australian Cancer Study (Ovarian, Pearce, Celeste Leigh, Weber, Rachel Palmieri , Doherty, Jennifer A. , Fridley, Brooke L. , Berchuck, Andrew , Cramer, Daniel W. , Yang, Hannah , Chanock, Stephen Jacob , Pharoah, Paul D.P. , Gentry‐Maharaj, Aleksandra , Ziogas, Argyrios , Brewster, Wendy R. , Anton‐Culver, Hoda , Group, The Australian Ovarian Cancer Study Management, Cancer), The Australian Cancer Study (Ovarian, Pearce, Celeste Leigh, Kjaer, Susanne K , Ramus, Susan J , Webb, Penelope M , Vierkant, Robert A , Menon, Usha , Moysich, Kirsten , Lissowska, Jolanta , García-Closas, Montserrat , Chenevix-Trench, Georgia , Høgdall, Estrid , Høgdall, Claus K , Goodman, Marc T
Cancer Epidemiology, Biomarkers & Prevention | January 7, 2010 | Volume: 19 | Issue: 1 | Pages: 245-250
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. Cancer Epidemiol Biomarkers Prev; 19(1); 244–50