Web of Science: 19 citations, Scopus: 20 citations, Google Scholar: citations,
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Osorio, Ana (Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain)
Milne, Roger L. (Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia)
Kuchenbaecker, Karoline (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Vaclová, Tereza (Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain)
Pita, Guillermo (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)
Alonso, Rosario (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)
Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy)
Blanco Guillermo, Ignacio (Institut Català d'Oncologia)
de la Hoya, Miguel (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain)
Duran, Mercedes (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain)
Díez, Orland (Vall d'Hebron Institut d'Oncologia)
Ramón y Cajal, Teresa (Institut d'Investigacions Biomèdiques Sant Pau)
Konstantopoulou, Irene (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece)
Martínez-Bouzas, Cristina (Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain)
Andrés Conejero, Raquel (Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain)
Soucy, Penny (Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada)
McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Barrowdale, Daniel (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Lee, Andrew (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
SWE-BRCA, None (Department of Oncology, Lund University, Lund, Sweden)
Arver, Brita (Department of Oncology, Karolinska University Hospital, Stockholm, Sweden)
Rantala, Johanna (Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden)
Loman, Niklas (Department of Oncology, Lund University Hospital, Lund, Sweden)
Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital, Lund, Sweden)
Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America)
Beattie, Mary S. (Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America)
Domchek, Susan M. (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America)
Nathanson, Katherine (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America)
Rebbeck, Timothy R. (Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America)
Arun, Banu K. (University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America)
Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America)
Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America)
Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America)
John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America)
Whittemore, Alice S. (Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America)
Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America)
Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia)
Hopper, John (Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia)
Terry, Mary B. (Department of Epidemiology, Columbia University, New York, New York, United States of America)
Buys, Saundra S. (Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America)
Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania)
Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa)
van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa)
Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America)
Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America)
Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America)
Hansen, Thomas v. O. (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark)
Jønson, Lars (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark)
Ejlertsen, Bent (Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark)
Gerdes, Anne-Marie (Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark)
Infante, Mar (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain)
Herráez, Belén (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)
Moreno, Leticia Thais (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)
Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America)
Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America)
Weeman, Kisa (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America)
Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy)
Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy)
Zaffaroni, Daniela (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy)
Scuvera, Giulietta (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy)
Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy)
Mariette, Frederique (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy)
Volorio, Sara (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy)
Viel, Alessandra (Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy)
Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy)
Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy)
Ottini, Laura (Department of Molecular Medicine, “Sapienza” University, Rome, Italy)
Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy)
Radice, Paolo (Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy)
Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece)
Garber, Judy (Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America)
Ellis, Steve (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Platte, Radka (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Fineberg, Elena (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom)
Lalloo, Fiona (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom)
Izatt, Louise (South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom)
Eeles, Ros (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom)
Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, United Kingdom)
Davidson, Rosemarie (Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom)
Cole, Trevor (West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom)
Eccles, Diana (Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom)
Cook, Jackie (Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom)
Hodgson, Shirley (Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom)
Brewer, Carole (Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom)
Tischkowitz, Marc (Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom)
Douglas, Fiona (Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom)
Porteous, Mary (South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom)
Side, Lucy (North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom)
Walker, Lisa (Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom)
Morrison, Patrick (Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom)
Donaldson, Alan (South West Regional Genetics Service, Bristol, United Kingdom)
Kennedy, John (Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire)
Foo, Claire (Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom)
Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America)
Schmutzler, Rita Katharina (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany)
Wappenschmidt, Barbara (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany)
Rhiem, Kerstin (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany)
Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany)
Meindl, Alfons (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany)
Ditsch, Nina (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany)
Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany)
Plendl, Hans Jörg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany)
Niederacher, Dieter (Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany)
Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany)
Wang-Gohrke, Shan (Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany)
Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany)
Preisler-Adams, Sabine (Institute of Human Genetics, University of Münster, Münster, Germany)
Kast, Karin (Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany)
Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany)
Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany)
Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France)
Sinilnikova, Olga M. (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France)
Mazoyer, Sylvie (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France)
Damiola, Francesca (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France)
Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium)
Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium)
Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America)
Tucker, Kathy (Prince of Wales Hospital. Sydney, Australia)
Backes, Floor (Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America)
Rodríguez, Gustavo (Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America)
Brewster, Wendy (Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America)
Wakeley, Katie (For Tufts Medical Center, Boston, Massachusetts, United States of America)
Rutherford, Thomas (Yale University School of Medicine, New Haven, Connecticut, United States of America)
Caldés, Trinidad (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain)
Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland)
Aittomäki, Kristiina (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland)
Rookus, Matti A. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands)
van Os, Theo A. M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands)
van der Kolk, Lizet (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands)
de Lange, J. L. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands)
Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands)
van der Hout, A. H. (University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands)
van Asperen, Christi J. (Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands)
Gómez Garcia, Encarna B. (Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands)
Hoogerbrugge, Nicoline (Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands)
Collée, J. Margriet (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands)
van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands)
van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands)
Devilee, Peter (Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands)
HEBON, None (The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands)
Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary)
Lázaro, Conxi (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain)
Teulé, Alex (Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain)
Menéndez, Mireia (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain)
Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Durda, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland)
Jaworska-Bieniek, Katarzyna (Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland)
Johannsson, Oskar Th. (Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland)
Maugard, Christine (Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France)
Montagna, Marco (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy)
Tognazzo, Silvia (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy)
Teixeira, Manuel R. (Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal)
Healey, Sue (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia)
Investigators, kConFab (Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia)
Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America)
Guidugli, Lucia (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America)
Lindor, Noralane (Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America)
Slager, Susan (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America)
Szabo, Csilla I. (Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America)
Vijai, Joseph (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Robson, Mark (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Kauff, Noah (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Zhang, Liying (Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Rau-Murthy, Rohini (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Fink-Retter, Anneliese (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Singer, Christian F. (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Rappaport, Christine (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Geschwantler Kaulich, Daphne (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Pfeiler, Georg (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Tea, Muy-Kheng (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Berger, Andreas (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria)
Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America)
Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America)
Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America)
Lejbkowicz, Flavio (Clalit National Israeli Cancer Control Center, Haifa, Israel)
Andrulis, Irene (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada)
Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada)
Glendon, Gord (Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada)
Toland, Amanda Ewart (Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America)
Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark)
Pedersen, Inge Sokilde (Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark)
Sunde, Lone (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark)
Thomassen, Mads (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark)
Kruse, Torben A. (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark)
Jensen, Uffe Birk (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark)
Friedman, Eitan (Sheba Medical Center, Tel Aviv, Israel)
Laitman, Yael (Sheba Medical Center, Tel Aviv, Israel)
Shimon, Shani Paluch (Sheba Medical Center, Tel Aviv, Israel)
Simard, Jacques (Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada)
Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Offit, Kenneth (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America)
Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America)
Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia)
Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom)
Benitez, Javier (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)

Date: 2014
Abstract: Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0. 05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1. 09, 95% CI (1. 03–1. 16), p = 2. 7×10 −3) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1. 12 95%CI: 1. 03–1. 21, p = 4. 8×10 −3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied. Women harboring a germ-line mutation in the BRCA1 or BRCA2 genes have a high lifetime risk to develop breast and/or ovarian cancer. However, not all carriers develop cancer and high variability exists regarding age of onset of the disease and type of tumor. One of the causes of this variability lies in other genetic factors that modulate the phenotype, the so-called modifier genes. Identification of these genes might have important implications for risk assessment and decision making regarding prevention of the disease. Given that BRCA1 and BRCA2 participate in the repair of DNA double strand breaks, here we have investigated whether variations, Single Nucleotide Polymorphisms (SNPs), in genes participating in other DNA repair pathway may be associated with cancer risk in BRCA carriers. We have selected the Base Excision Repair pathway because BRCA defective cells are extremely sensitive to the inhibition of one of its components, PARP1. Thanks to a large international collaborative effort, we have been able to identify at least two SNPs that are associated with increased cancer risk in BRCA1 and BRCA2 mutation carriers respectively. These findings could have implications not only for risk assessment, but also for treatment of BRCA1/2 mutation carriers with PARP inhibitors.
Rights: Aquest document està subjecte a una llicència d'ús Creative Commons en que s'entrega l'obra al domini públic. Podeu copiar, modificar, distribuir l'obra i fer-ne comunicació pública, fins i tot amb finalitat comercial, sense demanar cap mena de permís. Public domain
Language: Anglès.
Document: article ; recerca ; publishedVersion
Published in: PLoS Genetics, Vol. 10 (april 2014) , ISSN 1553-7404

PMID: 24698998
DOI: 10.1371/journal.pgen.1004256


12 p, 371.6 KB

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Articles > Research articles
Articles > Published articles

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