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rs495139 in the TYMS - ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

ORCID
0000-0003-4362-9784
Affiliation
Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA,
Kelemen, Linda;
Affiliation
Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, MN 55905, USA,
Earp, Madalene;
Affiliation
Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612 USA,
Fridley, Brooke;
Affiliation
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia,
Chenevix-Trench, Georgia;
Affiliation
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia,
On behalf of Australian Ovarian Cancer Study Group,;
Affiliation
Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center, 91054 Erlangen, Germany,
Fasching, Peter;
Affiliation
Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center, 91054 Erlangen, Germany,
Beckmann, Matthias;
Affiliation
Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen Nuremberg, Erlangen 91054, Germany,
Ekici, Arif;
ORCID
0000-0003-2601-3398
Affiliation
Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center, 91054 Erlangen, Germany,
Hein, Alexander;
Affiliation
Vesalius Research Center, University of Leuven, Leuven 3001, Belgium,
Lambrechts, Diether;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology and Leuven Cancer Institute, University Hospitals Leuven, Leuven 3000, Belgium,
Lambrechts, Sandrina;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology and Leuven Cancer Institute, University Hospitals Leuven, Leuven 3000, Belgium,
Van Nieuwenhuysen, Els;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics and Gynaecology and Leuven Cancer Institute, University Hospitals Leuven, Leuven 3000, Belgium,
Vergote, Ignace;
Affiliation
Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA,
Rossing, Mary;
Affiliation
Huntsman Cancer Institute, Department of Population Health Sciences, University of Utah, Salt Lake City, UT 84112, USA,
Doherty, Jennifer;
Affiliation
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany,
Chang-Claude, Jenny;
ORCID
0000-0002-9714-104X
Affiliation
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany,
Behrens, Sabine;
Affiliation
Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263, USA,
Moysich, Kirsten;
Affiliation
Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY 14263, USA,
Cannioto, Rikki;
Affiliation
Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA,
Lele, Shashikant;
Affiliation
Department of Gynecological Oncology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA,
Odunsi, Kunle;
Affiliation
Department of Cancer Prevention and Control, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Goodman, Marc;
Affiliation
Cancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA,
Shvetsov, Yurii;
Affiliation
Department of Cancer Prevention and Control, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Thompson, Pamela;
Affiliation
Cancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI 96813, USA,
Wilkens, Lynne;
Affiliation
Gynaecology Research Unit, Hannover Medical School, Hannover 30625, Germany,
Dörk, Thilo;
Affiliation
Byelorussian Institute for Oncology and Medical Radiology Aleksandrov N.N., Minsk 223040, Belarus,
Antonenkova, Natalia;
Affiliation
Gynaecology Research Unit, Hannover Medical School, Hannover 30625, Germany,
Bogdanova, Natalia;
ORCID
0000-0001-9829-3531
Affiliation
Clinics of Obstetrics and Gynaecology, Hannover Medical School, Hannover 30625, Germany,
Hillemanns, Peter;
GND
1111567727
Affiliation
Department of Gynecology, Jena University Hospital-Friedrich Schiller University, Jena 07743
Runnebaum, Ingo;
Affiliation
Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte (KEM), Essen 45136, Germany,
Du Bois, Andreas;
Affiliation
Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte (KEM), Essen 45136, Germany,
Harter, Philipp;
Affiliation
Department of Gynecology and Gynecologic Oncology, Kliniken Essen-Mitte (KEM), Essen 45136, Germany,
Heitz, Florian;
Affiliation
Praxis für Humangenetik, Wiesbaden 65187, Germany,
Schwaab, Ira;
Affiliation
Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland,
Butzow, Ralf;
Affiliation
Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland,
Pelttari, Liisa;
ORCID
0000-0002-0916-2976
Affiliation
Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland,
Nevanlinna, Heli;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA,
Modugno, Francesmary;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA,
Edwards, Robert;
Affiliation
Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA,
Kelley, Joseph;
Affiliation
School of Public Health, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA,
Ness, Roberta;
Affiliation
Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Karlan, Beth;
Affiliation
Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Lester, Jenny;
Affiliation
Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Orsulic, Sandra;
Affiliation
Women’s Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Walsh, Christine;
ORCID
0000-0002-8347-1398
Affiliation
Department of Gynaecology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark,
Kjaer, Susanne;
ORCID
0000-0001-8124-4880
Affiliation
Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Centre, DK-2100 Copenhagen, Denmark,
Jensen, Allan;
ORCID
0000-0002-8159-3025
Affiliation
Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, Rochester, MN 55905, USA,
Cunningham, Julie;
ORCID
0000-0001-6242-5221
Affiliation
Department of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN 55905, USA,
Vierkant, Robert;
Affiliation
Centre for Epidemiology and Biostatistics, University of Melbourne, VIC 3010, Australia,
Giles, Graham;
Affiliation
Cancer Epidemiology and Intelligence Division, Cancer Council Victoria, Melbourne, VIC 3004, Australia,
Bruinsma, Fiona;
Affiliation
Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia,
Southey, Melissa;
Affiliation
Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA,
Hildebrandt, Michelle;
Affiliation
College of Pharmacy and Health Sciences, Texas Southern University, Houston, TX 77004, USA,
Liang, Dong;
Affiliation
Department of Gynecologic Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA,
Lu, Karen;
Affiliation
Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA,
Wu, Xifeng;
Affiliation
Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA,
Sellers, Thomas;
Affiliation
Laura and Isaac Perlmutter Cancer Center, New York University Langone Health, New York, NY 10016, USA,
Levine, Douglas;
Affiliation
Department of Public Health Sciences, University of Virginia, Charlottesville, VA 22908, USA,
Schildkraut, Joellen;
Affiliation
Department of Statistical Science, Duke University, Durham, NC 27708, USA,
Iversen, Edwin;
Affiliation
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA,
Terry, Kathryn;
Affiliation
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA,
Cramer, Daniel;
Affiliation
Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA,
Tworoger, Shelley;
Affiliation
Channing Division of Network Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA 02115, USA,
Poole, Elizabeth;
Affiliation
Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08903, USA,
Bandera, Elisa;
Affiliation
Memorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York, NY 10065, USA,
Olson, Sara;
Affiliation
Memorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York, NY 10065, USA,
Orlow, Irene;
Affiliation
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen 5021, Norway,
Vestrheim Thomsen, Liv;
ORCID
0000-0002-0240-2770
Affiliation
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen 5021, Norway,
Bjorge, Line;
Affiliation
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen 5021, Norway,
Krakstad, Camilla;
Affiliation
Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen 5021, Norway,
Tangen, Ingvild;
Affiliation
Radboud University Medical Centre, Radboud Institute for Health Sciences, Nijmegen 6525 EZ, The Netherlands,
Kiemeney, Lambertus;
Affiliation
Radboud University Medical Centre, Radboud Institute for Health Sciences, Nijmegen 6525 EZ, The Netherlands,
Aben, Katja;
Affiliation
Radboud University Medical Centre, Department of Obstetrics and Gynecology, Nijmegen 6525 GA, The Netherlands,
Massuger, Leon;
Affiliation
Radboud University Medical Centre, Department of Obstetrics and Gynecology, Nijmegen 6525 GA, The Netherlands,
Van Altena, Anne;
Affiliation
Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR 97239, USA,
Pejovic, Tanja;
Affiliation
Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR 97239, USA,
Bean, Yukie;
Affiliation
Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR 97239, USA,
Kellar, Melissa;
Affiliation
Division of Epidemiology, Biostatistics and Preventive Medicine, Department of Internal Medicine, University of New Mexico, Albuquerque, NM 87131, USA,
Cook, Linda;
Affiliation
Cancer Control Research, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada,
Le, Nhu;
Affiliation
Canada’s Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC V5Z 1L3, Canada,
Brooks-Wilson, Angela;
ORCID
0000-0002-3643-2871
Affiliation
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 71-252, Poland,
Gronwald, Jacek;
Affiliation
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 71-252, Poland,
Cybulski, Cezary;
Affiliation
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 71-252, Poland,
Jakubowska, Anna;
Affiliation
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin 71-252, Poland,
Lubiński, Jan;
Affiliation
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA,
Wentzensen, Nicolas;
ORCID
0000-0003-3853-8562
Affiliation
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA,
Brinton, Louise;
Affiliation
Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Institute-Oncology Center, Warsaw 02-034, Poland,
Lissowska, Jolanta;
Affiliation
Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Centre, DK-2100 Copenhagen, Denmark,
Hogdall, Estrid;
Affiliation
Department of Radiation Oncology, Rigshospitalet, University of Copenhagen, Copenhagen DK-2100, Denmark,
Engelholm, Svend;
Affiliation
Department of Gynaecology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark,
Hogdall, Claus;
Affiliation
Department of Gynaecology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark,
Lundvall, Lene;
Affiliation
Department of Pathology, Rigshospitalet, University of Copenhagen, Copenhagen DK-2100, Denmark,
Nedergaard, Lotte;
ORCID
0000-0001-8494-732X
Affiliation
The Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK,
Pharoah, Paul;
Affiliation
The Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK,
Dicks, Ed;
Affiliation
The Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK,
Song, Honglin;
ORCID
0000-0003-3724-4757
Affiliation
The Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK,
Tyrer, Jonathan;
ORCID
0000-0002-9387-7586
Affiliation
Ovarian Cancer Action Research Centre, Department of Surgery and Cancer, Imperial College London, London W12 0NN, UK,
McNeish, Iain;
Affiliation
Department of Gynaecological Oncology, Glasgow Royal Infirmary, Glasgow G4 0SF, UK,
Siddiqui, Nadeem;
Affiliation
Cancer Research UK Clinical Trials Unit, The Beatson West of Scotland Cancer Centre, Glasgow G12 0YN, UK,
Carty, Karen;
ORCID
0000-0002-5000-1680
Affiliation
Cancer Research UK Clinical Trials Unit, The Beatson West of Scotland Cancer Centre, Glasgow G12 0YN, UK,
Glasspool, Rosalind;
Affiliation
Cancer Research UK Clinical Trials Unit, The Beatson West of Scotland Cancer Centre, Glasgow G12 0YN, UK,
Paul, James;
Affiliation
Department of Pathology, University of Melbourne, Melbourne, VIC 3010, Australia,
Campbell, Ian;
ORCID
0000-0002-9935-3169
Affiliation
Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK,
Eccles, Diana;
Affiliation
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA,
Whittemore, Alice;
Affiliation
Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA 94305, USA,
McGuire, Valerie;
Affiliation
Department of Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA,
Rothstein, Joseph;
Affiliation
Department of Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA,
Sieh, Weiva;
Affiliation
Women’s College Research Institute, University of Toronto, Toronto, ON M5S 1A8, Canada,
Narod, Steven;
Affiliation
Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA,
Phelan, Catherine;
Affiliation
Public Health Ontario, Samuel Lunenfeld Research Institute, Toronto, ON M5T 3L9, Canada,
McLaughlin, John;
Affiliation
Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06510, USA,
Risch, Harvey;
Affiliation
Department of Epidemiology, Genetic Epidemiology Research Institute, School of Medicine, University of California Irvine, Irvine, CA 92617, USA,
Anton-Culver, Hoda;
Affiliation
Department of Epidemiology, Genetic Epidemiology Research Institute, School of Medicine, University of California Irvine, Irvine, CA 92617, USA,
Ziogas, Argyrios;
ORCID
0000-0003-3708-1732
Affiliation
MRC Clinical Trials at UCL, Institute of Clinical Trials & Methodology, Population Health Sciences, University College London, London, WC1V 6LJ, UK,
Menon, Usha;
Affiliation
Department of Biomedical Sciences and Center for Cancer Prevention and Translational Genomics, Samuel Oschin Comprensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA,
Gayther, Simon;
Affiliation
MRC Clinical Trials at UCL, Institute of Clinical Trials & Methodology, Population Health Sciences, University College London, London, WC1V 6LJ, UK,
Gentry-Maharaj, Aleksandra;
ORCID
0000-0003-0005-7798
Affiliation
School of Women’s and Children’s Health, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia,
Ramus, Susan;
Affiliation
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA,
Wu, Anna;
Affiliation
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA,
Pearce, Celeste;
Affiliation
Department of Public Health, California State University, Fullerton, CA 92831, USA,
Lee, Alice;
Affiliation
Memorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York, NY 10065, USA,
Pike, Malcolm;
Affiliation
Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Center, Warsaw 02-034, Poland,
Kupryjanczyk, Jolanta;
Affiliation
Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Center, Warsaw 02-034, Poland,
Podgorska, Agnieszka;
Affiliation
Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Center, Warsaw 02-034, Poland,
Plisiecka-Halasa, Joanna;
Affiliation
Department of Obstetrics, Gynecology and Oncology, Second Faculty of Medicine, Medical University of Warsaw, Mazovian Bródno Hospital, Warsaw 03-242, Poland,
Sawicki, Wlodzimierz;
Affiliation
Department of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, MN 55905, USA,
Goode, Ellen;
Affiliation
Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC 27710, USA,
Berchuck, Andrew; Ovarian Cancer Association Consortium,

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 0 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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Published in:
International journal of molecular sciences
Vol. 19, No. 9 (21.08.2018)Art.-No.:2473
Volume:
19
No.:
9
Date Issued:
21.08.2018
URN:
urn:nbn:de:gbv:27-dbt-20221115-112901-007
DOI:
10.3390/ijms19092473
Language:
English
Type of Resource:
Text
Extent:
13 Seiten
Keywords:
  1. consortia
    Typ
    Schlagwort
  1. enolase superfamily member 1
    Typ
    Schlagwort
  1. expression quantitative trait locus
    Typ
    Schlagwort
  1. genetics
    Typ
    Schlagwort
  1. gynecology
    Typ
    Schlagwort
  1. ovarian neoplasms
    Typ
    Schlagwort
  1. single-nucleotide polymorphism
    Typ
    Schlagwort
  1. thymidylate synthase
    Typ
    Schlagwort
DDC subject of DNB:
610 Medical sciences Medicine
Hosting institution:
Friedrich-Schiller-Universität Jena, Medizinische Fakultät
note:
Zweitveröffentlichung

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