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1、DetectionofSomaticMutationsbyHigh-ResolutionDNAMelting(HRM)AnalysisinMultipleCancers11233JesusGonzalez-Bosquet,JacobCalcei,JunS.Wei,MontserratGarcia-Closas,MarkE.Sherman,45632StephenHewitt,JosephVockley,JolantaLissowska,HannahP.Yang,JavedKhan,Stephen
2、1Chanock*1LaboratoryofTranslationalGenomics,DepartmentofHealthandHumanServices(DHHS),NationalCancerInstitute(NCI),NationalInstitutesofHealth(NIH),Bethesda,Maryland,UnitedStatesofAmerica,2AdvancedTechnologyCenter,PediatricOncologyBranch,CenterforCance
3、rResearch,DHHS,NCI,NIH,Bethesda,Maryland,UnitedStatesofAmerica,3HormonalandReproductiveEpidemiologyBranch,DivisionofCancerEpidemiologyandGenetics,DHHS,NCI,NIH,Bethesda,Maryland,UnitedStatesofAmerica,4TissueArrayResearchProgram,DHHS,NCI,NIH,Bethesda,M
4、aryland,UnitedStatesofAmerica,5OfficeofCancerGenomics,DHHS,NCI,NIH,Bethesda,Maryland,UnitedStatesofAmerica,6DepartmentofCancerEpidemiologyandPrevention,M.Sklodowska-CurieInstituteofOncologyandCancerCenter,Warsaw,PolandAbstractIdentificationofsomaticm
5、utationsincancerisamajorgoalforunderstandingandmonitoringtheeventsrelatedtocancerinitiationandprogression.Highresolutionmelting(HRM)curveanalysisrepresentsafast,post-PCRhigh-throughputmethodforscanningsomaticsequencealterationsintargetgenes.Theaimoft
6、hisstudywastoassessthesensitivityandspecificityofHRManalysisfortumormutationscreeninginarangeoftumorsamples,whichincluded216frozenpediatricsmallroundedblue-celltumorsaswellas180paraffin-embeddedtumorsfrombreast,endometrialandovariancancers(60ofeach).
7、HRManalysiswasperformedinexonsofthefollowingcandidategenesknowntoharborestablishedcommonlyobservedmutations:PIK3CA,ERBB2,KRAS,TP53,EGFR,BRAF,GATA3,andFGFR3.Bi-directionalsequencinganalysiswasusedtodeterminetheaccuracyoftheHRManalysis.Forthe39mutation
8、sobservedinfrozensamples,thesensitivityandspecificityofHRManalysiswere97%and87%,respectively.Therewere67mutation/variantsintheparaffin-embeddedsamples,andthesensitivityandspecificityfortheHRManalysiswere88%and80%,respectively.Paraffin-embeddedsamples
