Citations 12
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
International Lung Cancer Consortium: Pooled Analysis of Sequence Variants in DNA Repair and Cell Cycle Pathways
Hung, Rayjean J., Risch, Angela , Popanda, Odilia , Haugen, Aage, Zienolddiny, Shanbeh , Benhamou, Simone , Bouchardy, Christine , Lan, Qing , Spitz, Margaret R., Wichmann, H. E., Vineis, Paolo , Matullo, Giuseppe , Kiyohara, Chikako , Zhang, Zuo‐Feng , Pezeshki, Benhnaz, Harris, Curtis C. , Mechanic, Leah E. , Seow, Adeline , Ng, Daniel , Szeszenia‐Dąbrowska, Neonila, Заридзе, Давид , Lissowska, Jolanta , Rudnai, Péter, Fabiánová, Eleonóra , Mateș, Dana , Foretová, Lenka , Janout, Vladimír , Bencko, Vladimír , Caporaso, Neil E. , Chen, Chu , Duell, Eric J. , Goodman, Gary E. , Field, John K. , Houlston, Richard S. , Landi, Maria Teresa , McLaughlin, John, Schwartz, Ann G. , Stücker, Isabelle, Tajima, Kazuo, Matsuo, Keitaro , Thun, Michael J., Andrew, Angeline S. , Monnier, Stéphanie, Brennan, Paul , Hung, Rayjean J. , Hung, Rayjean J., Christiani, David C. , Marchand, Loı̈c Le , Hong, Yun‐Chul , Lazarus, Philip J. , Muscat, Joshua E. , McLaughlin, John, Shen, Hongbing , Yang, Ping , Wiencke, John K. , Boffetta, Paolo , Houlston, Richard S , Lissowska, Jolanta , Duell, Eric J , Hung, Rayjean J , Field, John K , Matsuo, Keitaro , Mates, Dana , Matullo, Giuseppe , Risch, Angela , Zienolddiny, Shanbeh
Cancer Epidemiology, Biomarkers & Prevention | November 6, 2008 | Volume: 17 | Issue: 11 | Pages: 3081-3089
Abstract Background: The International Lung Cancer Consortium was established in 2004. To clarify the role of DNA repair genes in lung cancer susceptibility, we conducted a pooled analysis of genetic variants in DNA repair pathways, whose associations have been investigated by at least 3 individual studies. Methods: Data from 14 studies were pooled for 18 sequence variants in 12 DNA repair genes, including APEX1, OGG1, XRCC1, XRCC2, XRCC3, ERCC1, XPD, XPF, XPG, XPA, MGMT, and TP53. The total number of subjects included in the analysis for each variant ranged from 2,073 to 13,955 subjects. Results: Four of the variants were found to be weakly associated with lung cancer risk with borderline significance: these were XRCC3 T241M [heterozygote odds ratio (OR), 0.89; 95% confidence interval (95% CI), 0.79-0.99 and homozygote OR, 0.84; 95% CI, 0.71-1.00] based on 3,467 cases and 5,021 controls from 8 studies, XPD K751Q (heterozygote OR, 0.99; 95% CI, 0.89-1.10 and homozygote OR, 1.19; 95% CI, 1.02-1.39) based on 6,463 cases and 6,603 controls from 9 studies, and TP53 R72P (heterozygote OR, 1.14; 95% CI, 1.00-1.29 and homozygote OR, 1.20; 95% CI, 1.02-1.42) based on 3,610 cases and 5,293 controls from 6 studies. OGG1 S326C homozygote was suggested to be associated with lung cancer risk in Caucasians (homozygote OR, 1.34; 95% CI, 1.01-1.79) based on 2,569 cases and 4,178 controls from 4 studies but not in Asians. The other 14 variants did not exhibit main effects on lung cancer risk. Discussion: In addition to data pooling, future priorities of International Lung Cancer Consortium include coordinated genotyping and multistage validation for ongoing genome-wide association studies. (Cancer Epidemiol Biomarkers Prev 2008;17(11):3081–9)