Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
| Autor: | Permuth JB; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Pirie A; Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK., Ann Chen Y; Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA., Lin HY; Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA., Reid BM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Chen Z; Department of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA., Monteiro A; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Dennis J; Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK., Mendoza-Fandino G; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Anton-Culver H; Department of Epidemiology, Director of Genetic Epidemiology Research Institute, UCI School of Medicine, University of California Irvine, Irvine, CA, USA., Bandera EV; Cancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA., Bisogna M; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Brinton L; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Brooks-Wilson A; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver BC, Canada.; Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC, Canada., Carney ME; Department of Obstetrics and Gynecology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA., Chenevix-Trench G; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Queensland, Australia., Cook LS; Division of Epidemiology and Biostatistics, Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA., Cramer DW; Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA., Cunningham JM; Department of Laboratory of Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cybulski C; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., D'Aloisio AA; Social and Scientific Systems, Inc, Durham, NC, USA., Anne Doherty J; Department of Epidemiology, Geisel School of Medicine, Dartmouth College, Hanover, NY, USA., Earp M; Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA., Edwards RP; Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Ovarian Cancer Center of Excellence, Womens Cancer Research Program, Magee- Womens Research Institute & University of Pittsburgh Cancer Institute, Pittsburgh, PA, USA., Fridley BL; Department of Biostatistics, University of Kansas Medical Center, Kansas City, KS, USA., Gayther SA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA., Gentry-Maharaj A; Women's Cancer, Institute for Women's Health, University College London, London, UK., Goodman MT; Cancer Prevention and Control, Samuel Oshin Comprehensive Cancer Institute, Cedars- Sinai Medical Center, Los Angeles, CA, USA.; Community and Population Health Research Institute, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Gronwald J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Hogdall E; Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark and Molecular Unit, Department of Pathology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark., Iversen ES; Department of Statistical Science, Duke University, Durham, NC, USA., Jakubowska A; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Jensen A; Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark., Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California., Kelemen LE; Department of Public Health Sciences, Medical University of South Carolina College of Medicine, Charleston, SC, USA., Kjaer SK; Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.; Department of Gynaecology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Kraft P; Program in Genetic Epidemiology and Statistical Genetics, Harvard TH Chan School of Public Health, Boston, MA, USA., Le ND; Cancer Control Research, BC Cancer Agency, Vancouver, BC, Canada., Levine DA; Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Lissowska J; Department of Cancer Epidemiology and Prevention, The Maria Sklodowska-Curie Memorial Cancer Center, Warsaw, Poland., Lubinski J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Matsuo K; Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan., Menon U; Women's Cancer, Institute for Women's Health, University College London, London, UK., Modugno R; Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Ovarian Cancer Center of Excellence, Womens Cancer Research Program, Magee- Womens Research Institute & University of Pittsburgh Cancer Institute, Pittsburgh, PA, USA.; Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA., Moysich KB; Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA., Nakanishi T; Department of Gynecologic Oncology, Aichi Cancer Center Central Hospital, Nagoya, Aichi, Japan., Ness RB; The University of Texas School of Public Health, Houston, TX, USA., Olson S; Memorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York,NY, USA., Orlow I; Memorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York,NY, USA., Pearce CL; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.; Department of Epidemology,University of Michigan School of Public Health, Ann Arbor, MI, USA., Pejovic T; Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR, USA.; Knight Cancer Institute, Oregon Health and Science University, Portland, Oregon, USA., Poole EM; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA., Ramus SJ; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA., Anne Rossing M; Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.; Department of Epidemiology, University of Washington, Seattle, WA, USA., Sandler DP; Epidemiology Branch, Division of Intramural Research, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA., Shu XO; Vanderbilt University School of Medicine, Nashville, TN, USA., Song H; Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK., Taylor JA; Epidemiology Branch, Division of Intramural Research, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA., Teo SH; Cancer Research Malaysia, Subang Jaya, Malaysia.; University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia., Terry KL; Obstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA., Thompson PJ; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California., Tworoger SS; Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA., Webb PM; Population Health Department, QIMR Berghofer Medical Research Institute, Herston, QLD, Australia., Wentzensen N; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda MD, USA., Wilkens LR; Cancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA., Winham S; Department of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA., Woo YL; Department of Obstetrics and Gynaecology, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia., Wu AH; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA., Yang H; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda MD, USA., Zheng W; Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA., Ziogas A; Department of Epidemiology, University of California Irvine, Irvine, CA, USA., Phelan CM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Schildkraut JM; Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.; Cancer Control and Population Sciences, Duke Cancer Institute, Durham, NC, USA., Berchuck A; Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, USA, Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk., Goode EL; Department of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA., Pharoah PD; Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.; Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK., Sellers TA; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Human molecular genetics [Hum Mol Genet] 2016 Aug 15; Vol. 25 (16), pp. 3600-3612. Date of Electronic Publication: 2016 Jul 04. |
| DOI: | 10.1093/hmg/ddw196 |
| Abstrakt: | Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P < 5.0 × 10 - 7 ). One of the most significant signals (P (© The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.) |
| Databáze: | MEDLINE |
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