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

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简介：包括肠的组织变形(IM)和发育异常(Dys)评估在前列腺干细胞抗原(PSCA)和先进癌症前期的胃的损害的风险的基因多型性之间的关系的目的，基于人口的研究在Linqu被进行县，在中国的胃的癌症(GC)的一个高风险的区域。包括表面的胃炎(SG)的胃的损害的流行，长期的衰退胃炎(CAG)，IM和Dys被组织病理学说的检查决定的方法。遗传型被聚合酶链反应限制决定碎片长度多型性(PCR-RFLP)技术。IM和Dys的风险上的PSCA基因变体的效果被无条件的逻辑回归计算。结果Multivariate分析表明带PSCArs2294008CT/TT遗传型的题目与IM的增加的风险被联系(OR=1.38，95%CI=1.111.71)并且Dys(OR=1.75，95%CI=1.362.26)，特别为有H.pylori感染的题目(IM：OR=1.34，95%CI=1.051.71；Dys：OR=1.82，95%CI=1.372.42)。而且，H。pylori感染和PSCArs2294008CT/TT遗传型被观察联合提高IM的风险(OR=3.32，95%CI=2.334.71)并且Dys(OR=4.58，95%CI=2.997.04)。这研究建议了那PSCArs2294008的结论可能在GC的高风险人口之中影响IM或Dys的风险。

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

简介：Objective:RecentevidenceindicatesthatdysregulationofmicroRNA(miRNA)biogenesisisimplicatedincancerdevelopmentandprogression.BasedontheimportantroleofmiRNAbiogenesisgenesincarcinogenesis,wehypothesizedthatgeneticvariationsofthemiRNAbiogenesisgenesmaymodulatesusceptibilitytocervicalcancer.Methods:Weidentifiedthreesinglenucleotidepolymorphisms(SNPs)locatedinthe3’-untranslatedregions(3’-UTR)ofofmiRNAbiogenesiskeygenes(rs1057035inDICER,rs3803012inRANandrs10773771inHIWI)andgenotypedtheseSNPsinacase-controlstudyof1,486cervicalcancercasesand1,549cancer-freecontrolsinChinesewomen.Results:LogisticregressionanalysesshowedthatnosignificantassociationswereobservedbetweenthethreeSNPsandcervicalcancerrisk[rs3803012inRANAG/GGvs.AAadjustedOR=1.104,95%confidenceinterval(CI):0.859-1.419;rs1057035inDICERCT/CCvs.TTadjustedOR=0.962,95%CI:0.805-1.149;rs10773771inHIWICT/CCvs.TTadjustedOR=0.963,95%CI:0.826-1.122].Conclusions:Thefindingsdidnotsuggestthatgeneticvariantsinthe3’-UTRofRAN,DICERandHIWIofmiRNAbiogenesisgeneswereassociatedwiththeriskofcervicalcancerinthisChinesepopulation.

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.

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