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1、lettersGermlinemutationsinRAD51DconfersusceptibilitytoovariancancerCheyLoveday1,30,ClareTurnbull1,30,EmmaRamsay1,DeborahHughes1,EliseRuark1,JessicaRFrankum2,GeorginaBowden1,BolotKalmyrzaev1,MargaretWarren-Perry1,KatieSnape1,JulianWAdlard3,JulianBarwe
2、ll4,JonathanBerg5,AngelaFBrady6,CaroleBrewer7,GlenBrice8,CyrilChapman9,JackieCook10,RosemarieDavidson11,AlanDonaldson12,FionaDouglas13,LynnGreenhalgh14,AlexHenderson15,LouiseIzatt16,AjithKumar17,FionaLalloo18,ZosiaMiedzybrodzka19,PatrickJMorrison20,J
3、oanPaterson21,MaryPorteous22,MarkTRogers23,SusanShanley24,LisaWalker25,BreastCancerSusceptibilityCollaboration(UK)26,DianaEccles27,DGarethEvans28,AnthonyRenwick1,SheilaSeal1,ChristopherJLord2,AlanAshworth2,JorgeSReis-Filho2,AntonisCAntoniou29&Nazneen
4、Rahman1Recently,RAD51CmutationswereidentifiedinfamilieswithHomologousrecombinationisamechanismforrepairingstalledAllrightsreserved..breastandovariancancer.Thisobservationpromptedustoreplicationforks,DNAinterstrandcrosslinksanddouble-strandIncinvesti
5、gatetheroleofRAD51Dincancersusceptibility.Webreaks2.ConstitutionalinactivatingmutationsinseveralgenesthatidentifiedeightinactivatingRAD51DmutationsinunrelatedencodeproteinscrucialforDNArepairbyhomologousrecombinationindividualsfrom9 breast-ovarianc
6、ancerfamiliescomparedwithhavebeenshowntopredisposetocancer3.Inparticular,thesemuta-oneinactivatingmutationidentifiedin ,060controls(P=0.0).tionshaveastrongassociationwithfemalecancers,andmutationsinAmerica,Theassociationfoundherewasprincipallywitho
7、variancancer,genessuchasBRCA1,BRCA2,ATM,BRIP1,CHEK2,PALB2,RAD50withthreemutationsidentifiedinthe59pedigreeswiththreeorandRAD51Chavebeenshowntoconfersusceptibilitytobreastand/ormoreindividualswithovariancancer(P=0.0005).Therelativeriskovariancancer1,4
8、.Indeed,theanalysisoffamilieswithbreastandNatureofovariancancerforRAD51DmutationcarrierswasestimatedovariancancerwascrucialtomappingBRCA1(ref.5).Formanytobe6.30(95%CI2.86–3.85,P=4.8× 0–6).Bycontrast,weyears,itwaswidelybelievedthatthegeneticcontribu
