Journal Article

DKFZ-2018-01925

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.

Kelemen, L. E. ; Earp, M. ; Fridley, B. L. ; Chenevix-Trench, G. ; Group, A. O. C. S. (Collaboration Author) ; Fasching, P. A. ; Beckmann, M. W. ; Ekici, A. B. ; Hein, A. ; Lambrechts, D. ; Lambrechts, S. ; Van Nieuwenhuysen, E. ; Vergote, I. ; Rossing, M. A. ; Doherty, J. A. ; Chang-Claude, J.DKFZ* ; Behrens, S.DKFZ* ; Moysich, K. B. ; Cannioto, R. ; Lele, S. ; Odunsi, K. ; Goodman, M. T. ; Shvetsov, Y. B. ; Thompson, P. J. ; Wilkens, L. R. ; Dörk, T. ; Antonenkova, N. ; Bogdanova, N. ; Hillemanns, P. ; Runnebaum, I. B. ; du Bois, A. ; Harter, P. ; Heitz, F. ; Schwaab, I. ; Butzow, R. ; Pelttari, L. M. ; Nevanlinna, H. ; Modugno, F. ; Edwards, R. P. ; Kelley, J. L. ; Ness, R. B. ; Karlan, B. Y. ; Lester, J. ; Orsulic, S. ; Walsh, C. ; Kjaer, S. K. ; Jensen, A. ; Cunningham, J. M. ; Vierkant, R. A. ; Giles, G. G. ; Bruinsma, F. ; Southey, M. C. ; Hildebrandt, M. A. T. ; Liang, D. ; Lu, K. ; Wu, X. ; Sellers, T. A. ; Levine, D. A. ; Schildkraut, J. M. ; Iversen, E. S. ; Terry, K. L. ; Cramer, D. W. ; Tworoger, S. S. ; Poole, E. M. ; Bandera, E. V. ; Olson, S. H. ; Orlow, I. ; Vestrheim Thomsen, L. C. ; Bjorge, L. ; Krakstad, C. ; Tangen, I. L. ; Kiemeney, L. A. ; Aben, K. K. H. ; Massuger, L. F. A. G. ; van Altena, A. M. ; Pejovic, T. ; Bean, Y. ; Kellar, M. ; Cook, L. S. ; Le, N. D. ; Brooks-Wilson, A. ; Gronwald, J. ; Cybulski, C. ; Jakubowska, A. ; Lubiński, J. ; Wentzensen, N. ; Brinton, L. A. ; Lissowska, J. ; Hogdall, E. ; Engelholm, S. A. ; Hogdall, C. ; Lundvall, L. ; Nedergaard, L. ; Pharoah, P. D. P. ; Dicks, E. ; Song, H. ; Tyrer, J. P. ; McNeish, I. ; Siddiqui, N. ; Carty, K. ; Glasspool, R. ; Paul, J. ; Campbell, I. G. ; Eccles, D. ; Whittemore, A. S. ; McGuire, V. ; Rothstein, J. H. ; Sieh, W. ; Narod, S. A. ; Phelan, C. M. ; McLaughlin, J. R. ; Risch, H. A. ; Anton-Culver, H. ; Ziogas, A. ; Menon, U. ; Gayther, S. A. ; Gentry-Maharaj, A. ; Ramus, S. J. ; Wu, A. H. ; Pearce, C. L. ; Lee, A. W. ; Pike, M. C. ; Kupryjanczyk, J. ; Podgorska, A. ; Plisiecka-Halasa, J. ; Sawicki, W. ; Goode, E. L. ; Berchuck, A. ; Consortium, O. C. A. (Collaboration Author)

2018
Molecular Diversity Preservation International Basel

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Please use a persistent id in citations: doi:10.3390/ijms19092473

Abstract: Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3' gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report. The association between rs495139 and MOC was not significant in the independent sample (OR = 1.09; 95% CI = 0.97⁻1.22; p = 0.15; N = 665 cases). Meta-analysis suggested a weak association (OR = 1.13; 95% CI = 1.03⁻1.24; p = 0.01; N = 1019 cases). No significant association with risk of other OC histologic types was observed (p = 0.05 for tumor heterogeneity). In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (r = 0.51, p = 1.7 × 10-28), and nonsignificantly in five MOC tumors. The association results, along with inconclusive tumor eQTL findings, suggest that a true effect of rs495139 might be small.

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Contributing Institute(s):

1. Epidemiologie von Krebserkrankungen (C020)

Research Program(s):

1. 313 - Cancer risk factors and prevention (POF3-313) (POF3-313)

Appears in the scientific report 2018

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Physical, Chemical and Earth Sciences ; DOAJ Seal ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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