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@ARTICLE{Kelemen:141419,
author = {L. E. Kelemen and M. Earp and B. L. Fridley and G.
Chenevix-Trench and P. A. Fasching and M. W. Beckmann and A.
B. Ekici and A. Hein and D. Lambrechts and S. Lambrechts and
E. Van Nieuwenhuysen and I. Vergote and M. A. Rossing and J.
A. Doherty and J. Chang-Claude$^*$ and S. Behrens$^*$ and K.
B. Moysich and R. Cannioto and S. Lele and K. Odunsi and M.
T. Goodman and Y. B. Shvetsov and P. J. Thompson and L. R.
Wilkens and T. Dörk and N. Antonenkova and N. Bogdanova and
P. Hillemanns and I. B. Runnebaum and A. du Bois and P.
Harter and F. Heitz and I. Schwaab and R. Butzow and L. M.
Pelttari and H. Nevanlinna and F. Modugno and R. P. Edwards
and J. L. Kelley and R. B. Ness and B. Y. Karlan and J.
Lester and S. Orsulic and C. Walsh and S. K. Kjaer and A.
Jensen and J. M. Cunningham and R. A. Vierkant and G. G.
Giles and F. Bruinsma and M. C. Southey and M. A. T.
Hildebrandt and D. Liang and K. Lu and X. Wu and T. A.
Sellers and D. A. Levine and J. M. Schildkraut and E. S.
Iversen and K. L. Terry and D. W. Cramer and S. S. Tworoger
and E. M. Poole and E. V. Bandera and S. H. Olson and I.
Orlow and L. C. Vestrheim Thomsen and L. Bjorge and C.
Krakstad and I. L. Tangen and L. A. Kiemeney and K. K. H.
Aben and L. F. A. G. Massuger and A. M. van Altena and T.
Pejovic and Y. Bean and M. Kellar and L. S. Cook and N. D.
Le and A. Brooks-Wilson and J. Gronwald and C. Cybulski and
A. Jakubowska and J. Lubiński and N. Wentzensen and L. A.
Brinton and J. Lissowska and E. Hogdall and S. A. Engelholm
and C. Hogdall and L. Lundvall and L. Nedergaard and P. D.
P. Pharoah and E. Dicks and H. Song and J. P. Tyrer and I.
McNeish and N. Siddiqui and K. Carty and R. Glasspool and J.
Paul and I. G. Campbell and D. Eccles and A. S. Whittemore
and V. McGuire and J. H. Rothstein and W. Sieh and S. A.
Narod and C. M. Phelan and J. R. McLaughlin and H. A. Risch
and H. Anton-Culver and A. Ziogas and U. Menon and S. A.
Gayther and A. Gentry-Maharaj and S. J. Ramus and A. H. Wu
and C. L. Pearce and A. W. Lee and M. C. Pike and J.
Kupryjanczyk and A. Podgorska and J. Plisiecka-Halasa and W.
Sawicki and E. L. Goode and A. Berchuck},
collaboration = {A. O. C. S. Group and O. C. A. Consortium},
title = {rs495139 in the {TYMS}-{ENOSF}1 {R}egion and {R}isk of
{O}varian {C}arcinoma of {M}ucinous {H}istology.},
journal = {International journal of molecular sciences},
volume = {19},
number = {9},
issn = {1422-0067},
address = {Basel},
publisher = {Molecular Diversity Preservation International},
reportid = {DKFZ-2018-01925},
pages = {E2473},
year = {2018},
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.},
cin = {C020},
ddc = {540},
cid = {I:(DE-He78)C020-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30134598},
pmc = {pmc:PMC6163881},
doi = {10.3390/ijms19092473},
url = {https://inrepo02.dkfz.de/record/141419},
}