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.

简介：AIM:TocomprehensivelyevaluatethepotentialassociationofCOL1A1polymorphismswithhighmyopiabyasystematicreviewandMeta-analysis.METHODS:AllassociationstudiesonCOL1A1andhighmyopiareporteduptoJune10,2014inPubMed,Embase,WebofScience,andtheChineseBiomedicalDatabasewereretrieved.Oddsratios(ORs)and95%confidenceintervals(95%CIs)wereanalyzedforsinglenucleotidepolymorphisms(SNPs)usingfixed-andrandom-effectsmodelsaccordingtobetween-studyheterogeneity.PublicationbiasanalyseswereconductedbyEgger’stest.RESULTS:Atotaloffourstudiesfromreportedpaperswereincludedinthisanalysis.TheMeta-analysesforCOL1A1rs2075555,composedof2304highmyopiapatientsand2272controls,failedtodetectanysignificantassociationwithhighmyopia.Atotalof971casesand649controlsweretestedforCOL1A1rs2269336.TheassociationofCOL1A1rs2269336withhighmyopiawasobservedinrecessivemodel(CCvsCG+GG,P=0.03)andinheterozygousmodel(CGvsGG,P=0.04),butnotinothermodels.CONCLUSION:ThisMeta-analysisshowsthatCOL1A1rs2269336(CCvsCG+GG)affectsindividualsusceptibilitytohighmyopia,whereasthereisnoassociationdetectedbetweenSNPsrs2075555andhighmyopia.Giventhelimitedsamplesize,furtherinvestigationsincludingmoreethnicgroupsarerequiredtovalidatetheassociation.