简介：Epithelialovariancancerrepresentsthemostlethalgynecologicalmalignancyinthedevelopedworld,andcanbedividedintofivemainhistologicalsubtypes:highgradeserous,endometrioid,clearcell,mucinousandlowgradeserous.Thesesubtypesrepresentdistinctdiseaseentities,bothclinicallyandatthemolecularlevel.Molecularanalysishasrevealedsignificantgeneticheterogeneityinovariancancer,particularlywithinthehighgradeseroussubtype.Assuch,thissubtypehasbeenthefocusofmuchresearchefforttodate,revealingmolecularsubgroupsatboththegenomicandtranscriptomiclevelthathaveclinicalimplications.However,stratificationofovariancancerpatientsbasedontheunderlyingbiologyoftheirdiseaseremainsinitsinfancy.Here,wesummarizethemolecularchangesthatcharacterizethefivemainovariancancersubtypes,highlightpotentialopportunitiesfortargetedtherapeuticinterventionandoutlineprioritiesforfutureresearch.

简介：Theintroductionofnext-generationsequencing(NGS)technologyintestingforhereditarycancersusceptibilityallowstestingofmultiplecancersusceptibilitygenessimultaneously.Whiletherearemanypotentialbenefitstoutilizingthistechnologyinthehereditarycancerclinic,includingefficiencyoftimeandcost,therearealsoimportantlimitationsthatmustbeconsidered.Thebestpanelforthegivenclinicalsituationshouldbeselectedtominimizethenumberofvariantsofunknownsignificance.Theinclusioninpanelsoflowpenetranceornewlyidentifiedgeneswithoutspecificactionabilitycanbeproblematicforinterpretation.Geneticcounselorsareanessentialpartofthehereditarycancerriskassessmentteam,helpingthemedicalteamselectthemostappropriatetestandinterprettheoftencomplexresults.Geneticcounselorsobtainanextendedfamilyhistory,counselpatientsontheavailabletestsandthepotentialimplicationsofresultsforthemselvesandtheirfamilymembers(pre-testcounseling),explaintopatientstheimplicationsofthetestresults(post-testcounseling),andassistintestingfamilymembersatrisk.

简介：Objective:ThisstudyaimstoestablishamethodforhighlyparallelmultiplexeddetectionofgeneticmutationsinChineselungcancersamplesthroughAgenaiPLEXchemistryandmatrix-assistedlaserdesorptionionizationtime-of-flightanalysisonMassARRAYmassspectrometryplatform.Methods:Wereviewedtherelatedliteratureanddataonlungcancertreatments.Wealsoidentified99mutationhotspotsin13targetgenescloselyrelatedtothepathogenesis,drugresistance,andmetastasisoflungcancer.Atotalof297primers,composedof99pairedforwardandreverseamplificationprimersand99matchedextensionprimers,weredesignedusingAssayDesignsoftware.Thedetectionmethodwasestablishedbyanalyzingeightcelllinesandsixlungcancerspecimens.TheproposedmethodwasthenvalidatedthroughcomparisonsbyusingaLungCarta~(TM)kit.ThesensitivityandspecificityoftheproposedmethodwereevaluatedbydirectlysequencingEGFRandKRASgenesin100lungcancercases.Results:Theproposedmethodwasabletodetectmultiplexgeneticmutationsinlungcancercelllines.Thisfindingwasconsistentwiththeobservationsonpreviouslyreportedmutations.Theproposedmethodcanalsodetectsuchmutationsinclinicallungcancerspecimens.ThisresultwasconsistentwiththeobservationswithLungCarta~(TM)kit.However,anFGFR2mutationwasdetectedonlythroughtheproposedmethod.Themeasuredsensitivityandspecificitywere100%and96.3%,respectively.Conclusions:TheproposedMassARRAYtechnology-basedmultiplexmethodcandetectgeneticmutationsinChineselungcancerpatients.Therefore,theproposedmethodcanbeappliedtodetectmutationsinothercancertissues.