Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing-中国期刊网

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

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Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

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Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing

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