Common variants at 19p13 are associated with susceptibility to ovarian cancer

Bolton, Kelly L.; Tyrer, Jonathan P.; Song, Honglin; Ramus, Susan J.; Notaridou, Maria; Jones, Chris; Sher, Tanya; Gentry‐Maharaj, Aleksandra; Wozniak, Eva; Tsai, Ya-Yu; Weidhaas, Joanne B.; Paik, Daniel Y.; Berg, David J. Van Den; Stram, Daniel O.; Pearce, Celeste Leigh; Wu, Anna H.; Brewster, Wendy R.; Anton‐Culver, Hoda; Ziogas, Argyrios; Narod, Steven A.; Levine, Douglas A.; Kaye, Stanley B.; Brown, Robert E.; Paul, Jim; Flanagan, James M.; Sieh, Weiva; McGuire, Valerie; Whittemore, Alice S.; Campbell, Ian; Gore, Martin; Lissowska, Jolanta; Yang, Hanna; Mędrek, Krzysztof; Gronwald, Jacek; Lubiński, Jan; Jakubowska, Anna; Le, Nhu D.; Cook, Linda S.; Kelemen, Linda E.; Brook-Wilson, Angela; Massuger, Leon F.A.G.; Kiemeney, Lambertus A.; Aben, Katja K.H.; Altena, Anne M. van; Houlston, Richard S.; Tomlinson, Ian; Palmieri, Rachel T.; Moorman, Patricia G.; Schildkraut, Joellen M.; Iversen, Edwin S.; Phelan, Catherine M.; Vierkant, Robert A.; Cunningham, Julie M.; Goode, Ellen L.; Fridley, Brooke L.; Kruger-Kjaer, Susan; Blaeker, Jan; Høgdall, Estrid; Høgdall, Claus; Gross, Jenny; Karlan, Beth Y.; Ness, Roberta B.; Edwards, Robert P.; Odunsi, Kunle; Moyisch, Kirsten B; Baker, Julie; Modugno, Francesmary; Heikkinen, Tuomas; Bützow, Ralf; Nevanlinna, Heli; Leminen, Arto; Bogdanova, Natalia; Antonenkova, Natalia; Doerk, Thilo; Hillemanns, Peter; Dürst, Matthias; Runnebaum, Ingo B.; Thompson, Pamela J.; Carney, Michael E.; Goodman, Marc T.; Lurie, Galina; Wang-Gohrke, Shan; Hein, Rebecca; Chang‐Claude, Jenny; Rossing, Mary Anne; Cushing‐Haugen, Kara L.; Doherty, Jennifer A.; Chen, Chu; Rafnar, Thorunn; Besenbacher, Søren; Sulem, Patrick; Stefánsson, Kári; Birrer, Michael J.; Terry, Kathryn L.; Hernandez, Dena G.; Cramer, Daniel W.; Vergote, Ignace; Amant, Frédéric; Lambrechts, Diether; Despierre, Evelyn; Fasching, Peter A.; Beckmann, Matthias W.; Thiel, Falk; Ekici, Arif B.; Chen, Xiaoqing; Johnatty, Sharon E.; Webb, Penelope M.; Beesley, Jonathan; Chanock, Stephen J.; García-Closas, Montserrat; Sellers, Tom; Easton, Douglas F.; Berchuck, Andrew; Chenevix-Trench, Georgia; Pharoah, Paul D.P.; Gayther, Simon A.

doi:10.1038/ng.666

Cited by 237 publications

(214 citation statements)

References 21 publications

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“…Molecular epidemiological studies have been conducted with the candidate gene approach to identify low penetrance susceptibility genes for ovarian cancer, many of which have showed inconsistent results [4][5][6][7][8][9][10][11] . Recent genome-wide association studies (GWASs) have reported 11 new singlenucleotide polymorphisms (SNPs) that are associated with ovarian cancer risk in European populations [12][13][14][15][16][17] . However, the results from the published GWASs have also demonstrated race-and ethnicity-specific cancer susceptibility 18 .…”

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confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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Ovarian cancer is the leading cause of death from gynaecological malignancies worldwide. Here we perform a three-stage genome-wide association study (GWAS) in Han Chinese women to identify risk genetic variants for epithelial ovarian cancer (EOC). We scan 900,015 single-nucleotide polymorphisms (SNPs) in 1,057 EOC cases and 1,191 controls in stage I, and replicate 41 SNPs (P meta o10 À 4 ) in 960 EOC cases and 1,799 controls (stage II), and an additional 492 EOC cases and 1,004 controls (stage III). Finally, we identify two EOC susceptibility loci at 9q22.33 (rs1413299 in COL15A1, P meta ¼ 1.88 Â 10 À 8 ) and 10p11.21 (rs1192691 near ANKRD30A, P meta ¼ 2.62 Â 10 À 8 ), and two consistently replicated loci at 12q14.2 (rs11175194 in SRGAP1, P meta ¼ 1.14 Â 10 À 7 ) and 9q34.2 (rs633862 near ABO and SURF6, P meta ¼ 8.57 Â 10 À 7 ) (Po0.05 in all three stages). These results may advance our understanding of genetic susceptibility to EOC.

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confidence: 99%

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Chen

et al. 2014

Nat Commun

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“…The present data should also encourage a molecular search for genes modifying survival, supported by recent evidence on such a locus at chromosome 19p13.11. 27 Serous histology was associated most strongly with the recently detected low-risk germline loci for ovarian cancer. 27,28 Transcriptome sequencing has recently revealed common somatic mutations in the ARID1A gene, encoding a subunit for the chromatin remodeling complex, in clear cell and endometrioid tumors, reinforcing the evidence that these types of ovarian cancers arise from endometriosis.…”

Section: Discussionmentioning

confidence: 91%

“…27 Serous histology was associated most strongly with the recently detected low-risk germline loci for ovarian cancer. 27,28 Transcriptome sequencing has recently revealed common somatic mutations in the ARID1A gene, encoding a subunit for the chromatin remodeling complex, in clear cell and endometrioid tumors, reinforcing the evidence that these types of ovarian cancers arise from endometriosis. 29 For incident discordant cancers, at least 2 independent associations were observed only for ovary-breast (3 independent associations) and ovary-prostate (2 associations).…”

Section: Discussionmentioning

confidence: 91%

Incidence and mortality in epithelial ovarian cancer by family history of any cancer

Hemminki

Sundquist

Brandt

2011

Cancer

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Rectangular and circular waveguide evanescent‐mode filters with polarization‐preserving properties are presented. The filters are formed by inserting quadruple‐ridged resonators in a square or circular waveguide operated below cutoff. They are especially suited in applications requiring short and compact components. The numerical technique that facilitates eigenvalue and scattering parameter computations is verified against measurements. Basic design considerations are discussed, and structural dimensions are provided for two 9.5 GHz filters with 500 MHz bandwidth. Performances are validated by independent and commercially available electromagnetic software packages. Sensitivity issues for fabrication are addressed by a tolerance analysis. Fabrication accuracy is acceptable for operation in dual vertical and horizontal polarizations but is considerably more stringent for circularly polarized applications. © 2011 Wiley Periodicals, Inc. Microwave Opt Technol Lett 53:1435–1439, 2011; View this article online at wileyonlinelibrary.com. DOI 10.1002/mop.26016

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“…Previously published genome-wide association studies (GWASs) also reported several single nucleotide polymorphisms (SNPs) that confer low-penetrance susceptibility to EOC [7][8][9]. Despite these successes in identifying genetic variations for ovarian cancer risk [10,11], no EOC GWAS data has been reported for Chinese women.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms in the kinesin-like factor 1 B gene and risk of epithelial ovarian cancer in Eastern Chinese women

Shi

Jiang

et al. 2015

Tumor Biol.

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The kinesin-like factor 1 B (KIF1B) gene plays an important role in the process of apoptosis and the transformation and progression of malignant cells. Genetic variations in KIF1B may contribute to risk of epithelial ovarian cancer (EOC). In this study of 1,324 EOC patients and 1,386 cancer-free female controls, we investigated associations between two potentially functional single nucleotide polymorphisms in KIF1B and EOC risk by the conditional logistic regression analysis. General linear regression model was used to evaluate the correlation between the number of variant alleles and KIF1B mRNA expression levels. We found that the rs17401966 variant AG/GG genotypes were significantly associated with a decreased risk of EOC (adjusted odds ratio (OR)=0.81, 95 % confidence interval (CI)=0.68-0.97), compared with the AA genotype, but no associations were observed for rs1002076. Women who carried both rs17401966 AG/GG and rs1002076 AG/AA genotypes of KIF1B had a 0.82-fold decreased risk (adjusted 95 % CI=0.69-0.97), compared with others. Additionally, there was no evidence of possible interactions between about-mentioned co-variants. Further genotype-phenotype correlation analysis indicated that the number of rs17401966 variant G allele was significantly associated with KIF1B mRNA expression levels (P for GLM= 0.003 and 0.001 in all and Chinese subjects, respectively), with GG carriers having the lowest level of KIF1B mRNA expression. Taken together, the rs17401966 polymorphism likely regulates KIF1B mRNA expression and thus may be associated with EOC risk in Eastern Chinese women. Larger, independent studies are warranted to validate our findings.

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Common variants at 19p13 are associated with susceptibility to ovarian cancer

Cited by 237 publications

References 21 publications

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women

Incidence and mortality in epithelial ovarian cancer by family history of any cancer

Polymorphisms in the kinesin-like factor 1 B gene and risk of epithelial ovarian cancer in Eastern Chinese women

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