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


Authors: Bolton, K. L.; Tyrer, J.; Song, H.; Ramus, S. J.; Notaridou, M.; Jones, C.; Sher, T.; Gentry-Maharaj, A.; Wozniak, E.; Tsai, Y. Y.; Weidhaas, J.; Paik, D.; Van Den Berg, D. J.; Stram, D. O.; Pearce, C. L.; Wu, A. H.; Brewster, W.; Anton-Culver, H.; Ziogas, A.; Narod, S. A.; Levine, D. A.; Kaye, S. B.; Brown, R.; Paul, J.; Flanagan, J.; Sieh, W.; McGuire, V.; Whittemore, A. S.; Campbell, I.; Gore, M. E.; Lissowska, J.; Yang, H. P.; Medrek, K.; Gronwald, J.; Lubinski, J.; Jakubowska, A.; Le, N. D.; Cook, L. S.; Kelemen, L. E.; Brooks-Wilson, A.; Massuger, L. F. A. G.; Kiemeney, L. A.; Aben, K. K. H.; Van Altena, A. M.; Houlston, R.; Tomlinson, I.; Palmieri, R. T.; Moorman, P. G.; Schildkraut, J.; Iversen, E. S.; Phelan, C.; Vierkant, R. A.; Cunningham, J. M.; Goode, E. L.; Fridley, B. L.; Krüger Kjaer, S.; Blaeker, J.; Hogdall, E.; Hogdall, C.; Gross, J.; Karlan, B. Y.; Ness, R. B.; Edwards, R. P.; Odunsi, K.; Moyisch, K. B.; Baker, J. A.; Modugno, F.; Heikkinenen, T.; Butzow, R.; Nevanlinna, H.; Leminen, A.; Bogdanova, N.; Antonenkova, N.; Doerk, T.; Hillemanns, P.; Dürst, M.; Runnebaum, I.; Thompson, P. J.; Carney, M. E.; Goodman, M. T.; Lurie, G.; Wang-Gohrke, S.; Hein, R.; Chang-Claude, J.; Rossing, M. A.; Cushing-Haugen, K. L.; Doherty, J.; Chen, C.; Rafnar, T.; Besenbacher, S.; Sulem, P.; Stefansson, K.; Birrer, M. J.; Terry, K. L.; Hernandez, D.; Cramer, D. W.; Vergote, I.; Amant, F.; Lambrechts, D.; Despierre, E.; Fasching, P. A.; Beckmann, M. W.; Thiel, F. C.; Ekici, A. B.; Chen, X.; Australian Ovarian Cancer Study Group; Australian Cancer Study (Ovarian Cancer); on behalf of the Ovarian Association Consortium; Johnatty, S. E.; Webb, P. M.; Beesley, J.; Chanock, S.; Garcia-Closas, M.; Sellers, T.; Easton, D. F.; Berchuck, A.; Chenevix-Trench, G.; Pharoah, P. D. P.; Gayther, S. A.
Article Title: Common variants at 19p13 are associated with susceptibility to ovarian cancer
Abstract: Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5×10-4 and P = 6×10-4, respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3×10-9 and P = 4×10-11, respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development. © 2010 Nature America, Inc. All rights reserved.
Keywords: cancer survival; controlled study; middle aged; unclassified drug; human cell; major clinical study; overall survival; single nucleotide polymorphism; case-control studies; polymorphism, single nucleotide; clinical trial; histopathology; endometrial neoplasms; ovarian neoplasms; cancer susceptibility; genetic predisposition to disease; ovary cancer; gene expression; gene expression profiling; protein protein interaction; adenocarcinoma, mucinous; tumor markers, biological; cohort analysis; gene locus; genetic association; genetic variability; genotype; genome-wide association study; tumor cells, cultured; brca1 protein; risk factor; cancer mortality; ovary; survival time; oligonucleotide array sequence analysis; multicenter study; tumor protein; adaptor proteins, signal transducing; chromosomes, human, pair 19; adenocarcinoma, clear cell; cystadenocarcinoma, serous; epithelial ovarian cancer; genome, human; open reading frame; chromosome 19p; chromosome 19p13; gene replacement therapy; protein merit40
Journal Title: Nature Genetics
Volume: 42
Issue: 10
ISSN: 1061-4036
Publisher: Nature Publishing Group  
Date Published: 2010-10-01
Start Page: 880
End Page: 884
Language: English
DOI: 10.1038/ng.666
PUBMED: 20852633
PROVIDER: scopus
PMCID: PMC3125495
DOI/URL:
Notes: --- - "Cited By (since 1996): 5" - "Export Date: 20 April 2011" - "CODEN: NGENE" - "Source: Scopus"
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  1. Douglas A Levine
    380 Levine