Evidence map›Paper›PMID 24698998›Full record

ArticlePLoS genetics2014

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Ana Osorio, Roger L Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran and 190 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 1 pooled it
11.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

35 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Research progress on the role of the NEIL family in cancer.Frontiers in cell and developmental biology · 2025
    Review
  4. Interplay between altered metabolism and DNA damage and repair in ovarian cancer.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024
    Review
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. DNA Repair Pathway in Ovarian Cancer Patients Treated with HIPEC.International journal of molecular sciences · 2023
    Article
  11. Review
  12. Article
  13. A Low-Activity Polymorphic Variant of Human NEIL2 DNA Glycosylase.International journal of molecular sciences · 2022
    Article
  14. Article
  15. Article
  16. DNA glycosylase NEIL2 functions in multiple cellular processes.Progress in biophysics and molecular biology · 2021
    Review
  17. Article
  18. Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

200 authors at 20 institutions in 23 countries.

Ana OsorioHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Roger L MilneCancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Karoline KuchenbaeckerCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Tereza VaclováHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Guillermo PitaGenotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Rosario AlonsoGenotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Paolo PeterlongoIFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Ignacio BlancoGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Miguel de la HoyaMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain.
Mercedes DuranInstitute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain.
Orland DíezOncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Institut de Recerca (VHIR), and Universitat Autonoma de Barcelona, Barcelona, Spain.
Teresa Ramón Y CajalOncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Irene KonstantopoulouMolecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece.
Cristina Martínez-BouzasMolecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain.
Raquel Andrés ConejeroMedical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain.
Penny SoucyCancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada.
Lesley McGuffogCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Daniel BarrowdaleCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Andrew LeeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
SWE-BRCADepartment of Oncology, Lund University, Lund, Sweden.
Brita ArverDepartment of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Johanna RantalaDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Niklas LomanDepartment of Oncology, Lund University Hospital, Lund, Sweden.
Hans EhrencronaDepartment of Clinical Genetics, Lund University Hospital, Lund, Sweden.
Olufunmilayo I OlopadeCenter for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America.
Mary S BeattieDepartments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America.
Susan M DomchekAbramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
Katherine NathansonAbramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
Timothy R RebbeckAbramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Banu K ArunUniversity of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Christine WalshWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Esther M JohnDepartment of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America.
Alice S WhittemoreDepartment of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America.
Mary B DalyFox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Melissa SoutheyGenetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia.
John HopperCentre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia.
Mary B TerryDepartment of Epidemiology, Columbia University, New York, New York, United States of America.
Saundra S BuysDepartment of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
Ramunas JanaviciusVilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania.
Cecilia M DorflingDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Elizabeth J van RensburgDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Linda SteeleDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Susan L NeuhausenDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Yuan Chun DingDepartment of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Thomas V O HansenCenter for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Lars JønsonCenter for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Bent EjlertsenDepartment of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Anne-Marie GerdesDepartment of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Mar InfanteInstitute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain.
Belén HerráezGenotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Leticia Thais MorenoGenotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Jeffrey N WeitzelClinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Josef HerzogClinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Kisa WeemanClinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Siranoush ManoukianUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Bernard PeisselUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Daniela ZaffaroniUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Giulietta ScuveraUnit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Bernardo BonanniDivision of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Frederique MarietteIFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Sara VolorioIFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Alessandra VielDivision of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy.
Liliana VarescoUnit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Laura PapiUnit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Laura OttiniDepartment of Molecular Medicine, "Sapienza" University, Rome, Italy.
Maria Grazia TibilettiUO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy.
Paolo RadiceUnit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Drakoulis YannoukakosMolecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece.
Judy GarberDana-Farber Cancer Institute, Boston, Massachusetts, United States of America.
Steve EllisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Debra FrostCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Radka PlatteCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Elena FinebergCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Gareth EvansGenetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Fiona LallooGenetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Louise IzattSouth East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom.
Ros EelesOncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom.
Julian AdlardYorkshire Regional Genetics Service, Leeds, United Kingdom.
Rosemarie DavidsonFerguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom.
Trevor ColeWest Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom.
Diana EcclesWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Jackie CookSheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom.
Shirley HodgsonClinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom.
Carole BrewerDepartment of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
Marc TischkowitzDepartment of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom.
Fiona DouglasInstitute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom.
Mary PorteousSouth East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom.
Lucy SideNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
Lisa WalkerOxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom.
Patrick MorrisonNorthern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom.
Alan DonaldsonSouth West Regional Genetics Service, Bristol, United Kingdom.
John KennedyAcademic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire.
Claire FooCheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.
Andrew K GodwinDepartment of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America.
Rita Katharina SchmutzlerCentre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Barbara WappenschmidtCentre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Kerstin RhiemCentre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Christoph EngelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Alfons MeindlDepartment of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Nina DitschDepartment of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Norbert ArnoldDepartment of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Hans Jörg PlendlInstitute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Dieter NiederacherDepartment of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Christian SutterInstitute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Shan Wang-GohrkeDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Doris SteinemannInstitute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
Sabine Preisler-AdamsInstitute of Human Genetics, University of Münster, Münster, Germany.
Karin KastDepartment of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.
Raymonda Varon-MateevaInstitute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany.
Andrea GehrigCentre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany.
Dominique Stoppa-LyonnetInstitut Curie, Department of Tumour Biology, Paris, France; Institut Curie, INSERM U830, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Olga M SinilnikovaUnité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, Lyon, France; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Sylvie MazoyerINSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Francesca DamiolaINSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Bruce PoppeCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Kathleen ClaesCenter for Medical Genetics, Ghent University, Ghent, Belgium.
Marion PiedmonteGynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America.
Kathy TuckerPrince of Wales Hospital. Sydney, Australia.
Floor BackesOhio State University, Columbus Cancer Council, Columbus, Ohio, United States of America.
Gustavo RodríguezDivision of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America.
Wendy BrewsterDivision of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America.
Katie WakeleyFor Tufts Medical Center, Boston, Massachusetts, United States of America.
Thomas RutherfordYale University School of Medicine, New Haven, Connecticut, United States of America.
Trinidad CaldésMolecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Kristiina AittomäkiDepartment of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Matti A RookusDepartment of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Theo A M van OsDepartment of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Lizet van der KolkFamily Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
J L de LangeDepartment of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Hanne E J Meijers-HeijboerDepartment of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
A H van der HoutUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Christi J van AsperenDepartment of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands.
Encarna B Gómez GarciaDepartment of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
J Margriet ColléeDepartment of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
Carolien H M van DeurzenDepartment of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
Rob B van der LuijtDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Peter DevileeDepartment of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
HEBONThe Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Edith OlahDepartment of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Conxi LázaroMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Alex TeuléGenetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Mireia MenéndezMolecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Cezary CybulskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Katarzyna DurdaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Katarzyna Jaworska-BieniekDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
Oskar Th JohannssonDepartment of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland.
Christine MaugardLaboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France.
Marco MontagnaImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Silvia TognazzoImmunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Manuel R TeixeiraDepartment of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal.
Sue HealeyDepartment of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
KConFab InvestigatorsKathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia.
Curtis OlswoldDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Lucia GuidugliDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Noralane LindorCenter for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America.
Susan SlagerDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Csilla I SzaboCenter for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America.
Joseph VijaiClinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Mark RobsonClinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Noah KauffClinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Liying ZhangDiagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Rohini Rau-MurthyClinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Anneliese Fink-RetterDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Christian F SingerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Christine RappaportDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Daphne Geschwantler KaulichDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Georg PfeilerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Muy-Kheng TeaDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Andreas BergerDepartment of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Catherine M PhelanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America.
Mark H GreeneClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.
Phuong L MaiClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.
Flavio LejbkowiczClalit National Israeli Cancer Control Center, Haifa, Israel.
Irene AndrulisSamuel 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.
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Gord GlendonOntario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
Amanda Ewart TolandDivision 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.
Anders BojesenDepartment of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Inge Sokilde PedersenSection of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Lone SundeDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Mads ThomassenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Torben A KruseDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Uffe Birk JensenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Eitan FriedmanSheba Medical Center, Tel Aviv, Israel.
Yael LaitmanSheba Medical Center, Tel Aviv, Israel.
Shani Paluch ShimonSheba Medical Center, Tel Aviv, Israel.
Jacques SimardCanada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Kenneth OffitClinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Fergus J CouchDepartment of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Javier BenitezHuman Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
University of Cambridge · GBMemorial Sloan Kettering Cancer Center · USSpanish National Cancer Research Centre · ESCity of Hope · USInstitut d'Investigació Biomédica de Bellvitge · ESMayo Clinic · USCedars-Sinai Medical Center · USIFOM · ITUniversité Claude Bernard Lyon 1 · FRUniversity of Copenhagen · DKComprehensive Cancer Center Vienna · ATFondazione IRCCS Istituto Nazionale dei Tumori · ITKarolinska University Hospital · SEMount Sinai Hospital · CATUM Klinikum · DEUniversidad de Valladolid · ESUniversity of Helsinki · FILeiden University Medical Center · NLNational Centre of Scientific Research "Demokritos" · GRNational Institutes of Health · US

Funding

UNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI SHELLEY L BERGER · 1985 to 2026
$222.3M
Statistics CoreU10CA180822 · NCI · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI James J. Dignam · 2014 to 2026
$146.4M
NRG Oncology NCORP Research Base-BIQSFPUG1CA189867 · NCI · NRG ONCOLOGY FOUNDATION, INC. · PI Deborah Watkins Bruner, Lisa A. Kachnic · 2014 to 2026
$140.5M
GYNECOLOGIC ONCOLOGY GROUP HEADQUARTERSU10CA027469 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 1985 to 2013
$132.6M
TRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI KENNETH Lynn WRIGHT · 1998 to 2026
$93.5M
GYNECOLOGIC ONCOLOGY GROUP STATISTICAL OFFICEU10CA037517 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI BLESSING, JOHN A · 1985 to 2013
$67.4M
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9M
GYNECOLOGIC ONCOLOGY GROUPU10CA101165 · NCI · GYNECOLOGIC ONCOLOGY GROUP · PI DISAIA, PHILIP J. · 2003 to 2014
$43.1M
Transgenic & Gene-Targeting Shared ResourceP30CA168524 · NCI · UNIVERSITY OF KANSAS MEDICAL CENTER · PI NICOLE L NOLLEN · 2012 to 2026
$40.1M
Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
Breast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7M
Variation in Hormone and xenobiotic metabolizing enzyme genes and breast cancerP50CA125183 · NCI · UNIVERSITY OF CHICAGO · PI COX, NANCY · 2006 to 2010
$11.3M
Cancer Research UK 10118Cancer Research UK 11022Cancer Research UK 11174Cancer Research UK 15007Cancer Research UK 16563Cancer Research UK 17523Cancer Research UK 17528Cancer Research UK C12292/A11174Cancer Research UK C1287/A10118Cancer Research UK C1287/A11990CCR NIH HHS RC4A153828Intramural NIH HHSNCI NIH HHS 1U01CA161032NCI NIH HHS 1 U19 CA 148537NCI NIH HHS 5U01CA113916NCI NIH HHS CA 101165NCI NIH HHS CA116201NCI NIH HHS CA125183NCI NIH HHS CA128978NCI NIH HHS CA 27469NCI NIH HHS CA 37517NCI NIH HHS N02 CP011019NCI NIH HHS N02 CP065504NCI NIH HHS N02-CP-11019-50NCI NIH HHS N02-CP-65504NCI NIH HHS P30 CA033752NCI NIH HHS P30 CA168524NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA125183NCI NIH HHS R01 CA074415NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA140323NCI NIH HHS R01CA140323NCI NIH HHS R01 CA142996NCI NIH HHS R01CA74415NCI NIH HHS U01 CA113916NCI NIH HHS U01 CA161032NCI NIH HHS U10 CA027469NCI NIH HHS U10 CA037517NCI NIH HHS U10 CA101165NCI NIH HHS U19 CA148537NCI NIH HHS UM1 CA164920
6 · The paper itself

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.

Indexed as

AdolescentAdultAgedAged, 80 and overBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsDNA GlycosylasesDNA RepairFemaleGenetic Predisposition to DiseaseGenotypeHumansMiddle AgedOvarian NeoplasmsPolymorphism, Single NucleotideBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanDNA Glycosylases

Identifiers

PMID24698998
PMCPMC3974638
OpenAlexW2131786456

What OpenQuestion holds

Textmetadata
LicenceCC0
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.