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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
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نویسنده
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osorio a. ,milne r.l. ,kuchenbaecker k. ,vaclová t. ,pita g. ,alonso r. ,peterlongo p. ,blanco i. ,de la hoya m. ,duran m. ,díez o. ,ramón y cajal t. ,konstantopoulou i. ,martínez-bouzas c. ,andrés conejero r. ,soucy p. ,mcguffog l. ,barrowdale d. ,lee a. ,arver b. ,rantala j. ,loman n. ,ehrencrona h. ,olopade o.i. ,beattie m.s. ,domchek s.m. ,nathanson k. ,rebbeck t.r. ,arun b.k. ,karlan b.y. ,walsh c. ,lester j. ,john e.m. ,whittemore a.s. ,daly m.b. ,southey m. ,hopper j. ,terry m.b. ,buys s.s. ,janavicius r. ,dorfling c.m. ,van rensburg e.j. ,steele l. ,neuhausen s.l. ,ding y.c. ,hansen t.v.o. ,jønson l. ,ejlertsen b. ,gerdes a.-m. ,infante m. ,herráez b. ,moreno l.t. ,weitzel j.n. ,herzog j. ,weeman k. ,manoukian s. ,peissel b. ,zaffaroni d. ,scuvera g. ,bonanni b. ,mariette f. ,volorio s. ,viel a. ,varesco l. ,papi l. ,ottini l. ,tibiletti m.g. ,radice p. ,yannoukakos d. ,garber j. ,ellis s. ,frost d. ,platte r. ,fineberg e. ,evans g. ,lalloo f. ,izatt l. ,eeles r. ,adlard j. ,davidson r. ,cole t. ,eccles d. ,cook j. ,hodgson s. ,brewer c. ,tischkowitz m. ,douglas f. ,porteous m. ,side l. ,walker l. ,morrison p. ,donaldson a. ,kennedy j. ,foo c. ,godwin a.k. ,schmutzler r.k. ,wappenschmidt b. ,rhiem k. ,engel c. ,meindl a. ,ditsch n. ,arnold n. ,plendl h.j. ,niederacher d. ,sutter c. ,wang-gohrke s. ,steinemann d. ,preisler-adams s. ,kast k. ,varon-mateeva r. ,gehrig a. ,stoppa-lyonnet d. ,sinilnikova o.m. ,mazoyer s. ,damiola f. ,poppe b. ,claes k. ,piedmonte m. ,tucker k. ,backes f. ,rodríguez g. ,brewster w. ,wakeley k. ,rutherford t. ,caldés t. ,nevanlinna h. ,aittomäki k. ,rookus m.a. ,van os t.a.m. ,van der kolk l. ,de lange j.l. ,meijers-heijboer h.e.j. ,van der hout a.h. ,van asperen c.j. ,gómez garcia e.b. ,hoogerbrugge n. ,collée j.m. ,van deurzen c.h.m. ,van der luijt r.b. ,devilee p. ,olah e. ,lázaro c. ,teulé a. ,menéndez m. ,jakubowska a. ,cybulski c. ,gronwald j. ,lubinski j. ,durda k. ,jaworska-bieniek k. ,johannsson o.t. ,maugard c. ,montagna m. ,tognazzo s. ,teixeira m.r. ,healey s. ,olswold c. ,guidugli l. ,lindor n. ,slager s. ,szabo c.i. ,vijai j. ,robson m. ,kauff n. ,zhang l. ,rau-murthy r. ,fink-retter a. ,singer c.f. ,rappaport c. ,geschwantler kaulich d. ,pfeiler g. ,tea m.-k. ,berger a. ,phelan c.m. ,greene m.h. ,mai p.l. ,lejbkowicz f. ,andrulis i. ,mulligan a.m. ,glendon g. ,toland a.e. ,bojesen a. ,pedersen i.s. ,sunde l. ,thomassen m. ,kruse t.a. ,jensen u.b. ,friedman e. ,laitman y. ,shimon s.p. ,simard j. ,easton d.f. ,offit k. ,couch f.j. ,chenevix-trench g. ,antoniou a.c. ,benitez j.
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منبع
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plos genetics - 2014 - دوره : 10 - شماره : 4
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چکیده
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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. © 2014.
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آدرس
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human genetics group,spanish national cancer centre (cnio),madrid,spain,biomedical network on rare diseases (ciberer),madrid, Spain, cancer epidemiology centre,cancer council victoria,melbourne, Australia, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, human genetics group,spanish national cancer centre (cnio),madrid, Spain, genotyping unit (cegen),spanish national cancer centre (cnio),madrid, Spain, genotyping unit (cegen),spanish national cancer centre (cnio),madrid, Spain, ifom,fondazione istituto firc di oncologia molecolare,milan, Italy, genetic counseling unit,hereditary cancer program,idibell-catalan institute of oncology,barcelona, Spain, molecular oncology laboratory,hospital clinico san carlos,idissc,madrid, Spain, institute of biology and molecular genetics,universidad de valladolid (ibgm-uva),valladolid, Spain, oncogenetics 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, oncology service,hospital de la santa creu i sant pau,barcelona, Spain, molecular diagnostics laboratory irrp,national centre for scientific research demokritos aghia paraskevi attikis,athens, Greece, molecular genetics laboratory (department of biochemistry),cruces hospital barakaldo,bizkaia, Spain, medical oncology service,hospital clínico lozano blesa,san juan bosco,zaragoza, Spain, cancer genomics laboratory,centre hospitalier universitaire de québec and laval university,quebec city, Canada, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, department of oncology,karolinska university hospital,stockholm, Sweden, department of clinical genetics,karolinska university hospital,stockholm, Sweden, department of oncology,lund university hospital,lund, Sweden, department of clinical genetics,lund university hospital,lund, Sweden, center for clinical cancer genetics and global health,university of chicago medical center,chicago,il, United States, departments of medicine,epidemiology,and biostatistics,university of california,san francisco,san francisco,ca, United States, abramson cancer center and department of medicine,the university of pennsylvania school of medicine,philadelphia,pa, United States, abramson cancer center and department of medicine,the university of pennsylvania school of medicine,philadelphia,pa, United States, abramson cancer center and center for clinical epidemiology and biostatistics,the university of pennsylvania perelman school of medicine,philadelphia,pa, United States, university of texas md anderson cancer center,houston,tx, United States, women's cancer program at the samuel oschin comprehensive cancer institute,cedars-sinai medical center,los angeles,ca, United States, women's cancer program at the samuel oschin comprehensive cancer institute,cedars-sinai medical center,los angeles,ca, United States, women's cancer program at the samuel oschin comprehensive cancer institute,cedars-sinai medical center,los angeles,ca, United States, department of epidemiology,cancer prevention institute of california,fremont,ca, United States, department of health research and policy,stanford university school of medicine,stanford,ca, United States, fox chase cancer center,philadelphia,pa, United States, genetic epidemiology laboratory,department of pathology,university of melbourne,parkville, Australia, centre for molecular,environmental,genetic and analytic epidemiology,university of melbourne,melbourne,vic, Australia, department of epidemiology,columbia university,new york,ny, United States, department of oncological sciences,huntsman cancer institute,university of utah school of medicine,salt lake city,ut, United States, vilnius univ. hospital santariskiu clinics,hematology,oncology and transfusion medicine center,department of molecular and regenerative medicine,vilnius, Lithuania, department of genetics,university of pretoria,pretoria, South Africa, department of genetics,university of pretoria,pretoria, South Africa, department of population sciences,beckman research institute of city of hope,duarte,ca, United States, department of population sciences,beckman research institute of city of hope,duarte,ca, United States, department of population sciences,beckman research institute of city of hope,duarte,ca, United States, center for genomic medicine,rigshospitalet,university of copenhagen,copenhagen, Denmark, center for genomic medicine,rigshospitalet,university of copenhagen,copenhagen, Denmark, department of oncology,rigshospitalet,university of copenhagen,copenhagen, Denmark, department of clinical genetics,rigshospitalet,university of copenhagen,copenhagen, Denmark, institute of biology and molecular genetics,universidad de valladolid (ibgm-uva),valladolid, Spain, genotyping unit (cegen),spanish national cancer centre (cnio),madrid, Spain, genotyping unit (cegen),spanish national cancer centre (cnio),madrid, Spain, clinical cancer genetics,city of hope,duarte,ca, United States, clinical cancer genetics,city of hope,duarte,ca, United States, clinical cancer genetics,city of hope,duarte,ca, United States, unit of medical genetics,department of preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan, Italy, unit of medical genetics,department of preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan, Italy, unit of medical genetics,department of preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan, Italy, unit of medical genetics,department of preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan, Italy, division of cancer prevention and genetics,istituto europeo di oncologia,milan, Italy, ifom,fondazione istituto firc di oncologia molecolare and cogentech cancer genetic test laboratory,milan, Italy, ifom,fondazione istituto firc di oncologia molecolare and cogentech cancer genetic test laboratory,milan, Italy, division of experimental oncology 1,centro di riferimento oncologico,irccs,aviano, Italy, 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, unit of medical genetics,department of biomedical,experimental and clinical sciences,university of florence,florence, Italy, department of molecular medicine,sapienza university,rome, Italy, uo anatomia patologica,ospedale di circolo-università dell'insubria,varese, Italy, unit of molecular bases of genetic risk and genetic testing,department of preventive and predictive medicine,fondazione irccs istituto nazionale tumori (int),milan, Italy, molecular diagnostics laboratory irrp,national centre for scientific research demokritos aghia paraskevi attikis,athens, Greece, dana-farber cancer institute,boston,ma, United States, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, genetic medicine,manchester academic health sciences centre,central manchester university hospitals nhs foundation trust,manchester, United Kingdom, genetic medicine,manchester academic health sciences centre,central manchester university hospitals nhs foundation trust,manchester, United Kingdom, south east thames regional genetics service,guy's hospital london, United Kingdom, oncogenetics team,the institute of cancer research and royal marsden nhs foundation trust,london, United Kingdom, yorkshire regional genetics service,leeds, United Kingdom, ferguson-smith centre for clinical genetics,yorkhill hospitals,glasgow, United Kingdom, west midlands regional genetics service,birmingham women's hospital healthcare nhs trust,edgbaston,birmingham, United Kingdom, wessex clinical genetics service,princess anne hospital,southampton, United Kingdom, sheffield clinical genetics service,sheffield children's hospital,sheffield, United Kingdom, clinical genetics department,st georges hospital,university of london,london, United Kingdom, department of clinical genetics,royal devon and exeter hospital,exeter, United Kingdom, department of clinical genetics,east anglian regional genetics service,addenbrookes hospital,cambridge, United Kingdom, institute of human genetics,centre for life,newcastle upon tyne hospitals nhs trust,newcastle upon tyne, United Kingdom, south east of scotland regional genetics service,western general hospital,edinburgh, United Kingdom, north east thames regional genetics service,great ormond street hospital for children nhs trust,london, United Kingdom, oxford regional genetics service,churchill hospital,oxford, United Kingdom, northern ireland regional genetics centre,belfast city hospital,belfast, United Kingdom, south west regional genetics service,bristol, United Kingdom, academic unit of clinical and molecular oncology,trinity college dublin and st james's hospital,dublin, United Kingdom, cheshire and merseyside clinical genetics service,liverpool women's nhs foundation trust,liverpool, United Kingdom, department of pathology and laboratory medicine,university of kansas medical center,kansas city,ks, United States, centre of familial breast and ovarian cancer and centre for integrated oncology (cio),university hospital of cologne,cologne, Germany, centre of familial breast and ovarian cancer and centre for integrated oncology (cio),university hospital of cologne,cologne, Germany, centre of familial breast and ovarian cancer and centre for integrated oncology (cio),university hospital of cologne,cologne, Germany, institute for medical informatics,statistics and epidemiology,university of leipzig,leipzig, Germany, department of gynaecology and obstetrics,division of tumor genetics,klinikum rechts der isar,technical university munich,munich, Germany, department of gynaecology and obstetrics,division of tumor genetics,klinikum rechts der isar,technical university munich,munich, Germany, department of gynecology and obstetrics,university medical center schleswig-holstein,campus kiel,kiel, Germany, institute of human genetics,university medical center schleswig-holstein,campus kiel,kiel, Germany, department of gynaecology and obstetrics,university hospital düsseldorf,heinrich-heine university düsseldorf,düsseldorf, Germany, institute of human genetics,department of human genetics,university hospital heidelberg,heidelberg, Germany, department of gynaecology and obstetrics,university hospital ulm,ulm, Germany, institute of cell and molecular pathology,hannover medical school,hannover, Germany, institute of human genetics,university of münster,münster, Germany, department of gynaecology and obstetrics,university hospital carl gustav carus,technical university dresden,dresden, Germany, institute of human genetics,campus virchov klinikum,charite berlin,berlin, Germany, centre of familial breast and ovarian cancer,department of medical genetics,institute of human genetics,university würzburg,würzburg, Germany, institut curie,department of tumour biology,paris,france,institut curie,inserm u830,paris,france,université paris descartes,sorbonne paris cité,paris, France, unité 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, inserm u1052,cnrs umr5286,université lyon 1,centre de recherche en cancérologie de lyon,lyon, France, inserm u1052,cnrs umr5286,université lyon 1,centre de recherche en cancérologie de lyon,lyon, France, center for medical genetics,ghent university,ghent, Belgium, center for medical genetics,ghent university,ghent, Belgium, gynecologic oncology group statistical and data center,roswell park cancer institute,buffalo,ny, United States, prince of wales hospital,sydney, Australia, ohio state university,columbus cancer council,columbus,oh, United States, division of gynecologic oncology,northshore university healthsystem,evanston,il, United States, division of gynecologic oncology,northshore university healthsystem,chicago,il, United States, for tufts medical center,boston,ma, United States, yale university school of medicine,new haven,ct, United States, molecular oncology laboratory,hospital clinico san carlos,idissc,madrid, Spain, department of obstetrics and gynecology,university of helsinki and helsinki university central hospital,helsinki, Finland, department of obstetrics and gynecology,university of helsinki and helsinki university central hospital,helsinki, Finland, department of epidemiology,netherlands cancer institute,amsterdam, Netherlands, department of clinical genetics,academic medical center,amsterdam, Netherlands, family cancer clinic,netherlands cancer institute,amsterdam, Netherlands, department of epidemiology,netherlands cancer institute,amsterdam, Netherlands, department of clinical genetics,vu university medical centre,amsterdam, Netherlands, university of groningen,university medical center groningen,department of genetics,groningen, Netherlands, department of clinical genetics,leiden university medical center leiden,leiden, Netherlands, department of clinical genetics and grow,school for oncology and developmental biology,mumc,maastricht, Netherlands, department of human genetics,radboud university nijmegen medical centre,nijmegen, Netherlands, department of clinical genetics,family cancer clinic,erasmus university medical center,rotterdam, Netherlands, department of pathology,family cancer clinic,erasmus university medical center,rotterdam, Netherlands, department of medical genetics,university medical center utrecht,utrecht, Netherlands, department of human genetics and department of pathology,leiden university medical center,leiden, Netherlands, department of molecular genetics,national institute of oncology,budapest, Hungary, molecular diagnostic unit,hereditary cancer program,idibell-catalan institute of oncology,barcelona, Spain, genetic counseling unit,hereditary cancer program,idibell-catalan institute of oncology,barcelona, Spain, molecular diagnostic unit,hereditary cancer program,idibell-catalan institute of oncology,barcelona, Spain, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin, Poland, department of genetics and pathology,pomeranian medical university,szczecin,poland,postgraduate school of molecular medicine,warsaw medical university,warsaw, Poland, department of oncology,landspitali university hospital and bmc,university of iceland,reykjavik, Iceland, laboratoire de diagnostic génétique et service d'onco-hématologie,hopitaux universitaire de strasbourg,chru nouvel hôpital civil,strasbourg, France, immunology and molecular oncology unit,veneto institute of oncology iov - irccs,padua, Italy, immunology and molecular oncology unit,veneto institute of oncology iov - irccs,padua, Italy, department of genetics,portuguese oncology institute,porto,and biomedical sciences institute (icbas),porto university,porto, Portugal, department of genetics and computational biology,queensland institute of medical research,brisbane, Australia, department of health sciences research,mayo clinic,rochester,mn, United States, department of laboratory medicine and pathology,mayo clinic,rochester,mn, United States, center for individualized medicine,mayo clinic,scottsdale,az, United States, department of health sciences research,mayo clinic,rochester,mn, United States, center for translational cancer research,department of biological sciences,university of delaware,newark,de, United States, clinical genetics service,memorial sloan-kettering cancer center,new york,ny,united states,cancer biology and genetics program,memorial sloan-kettering cancer center,new york,ny, United States, clinical genetics service,memorial sloan-kettering cancer center,new york,ny, United States, clinical genetics service,memorial sloan-kettering cancer center,new york,ny, United States, diagnostic molecular genetics laboratory,memorial sloan-kettering cancer center,new york,ny, United States, clinical genetics service,memorial sloan-kettering cancer center,new york,ny, United States, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of ob/gyn and comprehensive cancer center,medical university of vienna,vienna, Austria, department of cancer epidemiology,moffitt cancer center,tampa,fl, United States, clinical genetics branch,division of cancer epidemiology and genetics,national cancer institute,national institutes of health,rockville,md, United States, clinical genetics branch,division of cancer epidemiology and genetics,national cancer institute,national institutes of health,rockville,md, United States, clalit national israeli cancer control center,haifa, Israel, cancer care ontario,departments of molecular genetics and laboratory medicine and pathobiology,university of toronto,toronto,on,canada,samuel lunenfeld research institute,mount sinai hospital,toronto,on, Canada, laboratory medicine program,university health network,toronto,on,canada,department of laboratory medicine and pathobiology,university of toronto,toronto,on, Canada, ontario cancer genetics network: samuel lunenfeld research institute,mount sinai hospital,toronto,on, Canada, division of human cancer genetics,departments of internal medicine and molecular virology,immunology and medical genetics,comprehensive cancer center,the ohio state university,columbus,oh, United States, department of clinical genetics,vejle hospital,vejle, Denmark, section of molecular diagnostics,department of clinical biochemistry,aalborg university hospital,aalborg, Denmark, department of clinical genetics,aarhus university hospital,aarhus, Denmark, department of clinical genetics,odense university hospital,odense, Denmark, department of clinical genetics,odense university hospital,odense, Denmark, department of clinical genetics,aarhus university hospital,aarhus, Denmark, sheba medical center,tel aviv, Israel, sheba medical center,tel aviv, Israel, sheba medical center,tel aviv, Israel, canada research chair in oncogenetics,cancer genomics laboratory,centre hospitalier universitaire de québec and laval university,quebec city, Canada, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, clinical genetics service,memorial sloan-kettering cancer center,new york,ny,united states,cancer biology and genetics program,memorial sloan-kettering cancer center,new york,ny, United States, department of health sciences research,mayo clinic,rochester,mn,united states,department of laboratory medicine and pathology,mayo clinic,rochester,mn, United States, department of genetics and computational biology,queensland institute of medical research,brisbane, Australia, centre for cancer genetic epidemiology,department of public health and primary care,university of cambridge,cambridge, United Kingdom, human 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
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