cancer risk assessmentbreast and ovarian cancer家族性癌症的风险assessmentbreast和卵巢癌课件

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1、FamilialCancerRiskAssessment:BreastandOvarianCancerGeneticsandPrimaryCareCase1:RuthRuth,a35yearoldJewishwoman,comesforafamilyplanningvisit.Youinquireaboutfamilyhealthhistoryandfindoutthefollowinginformation:MaternalfamilyhistoryisnegativeforcancerPat

2、ernalfamilyhistoryissignificantfor:Paternalauntwithovariancancerageat55Paternalgrandmotherwithbreastcancerage42RuthhasnootherriskfactorsorpertinentfamilyhistoryCase2:AlisonAlisonisa40yearoldCaucasian(non-Jewish)patientwhoasksyouforinformationaboutthe

3、“breastcancergenetest”.Shestatesshewantsthistest.Youaskaboutherfamilyhistory:Motherwithbreastcancer-age58Maternalauntwithbreastcancer–age65Paternalgrandmotherwithbreastcancer–age79AlisonhasnootherriskfactorsforbreastcancerShefeelsthatwithherfamilyhis

4、tory,breastcancerisinevitableOutlineHereditarybreastandovariancancerGeneticcounselingandtestingforhereditarybreastand/orovariancancerCancerfamilyhistory–aprimarytoolScreeningforhereditarybreast/ovarianCAintheprimarycaresettingWhenandhowtoreferpatient

5、sforgeneticservicesCancerEtiology:~5-10%ofcaseshaveastronghereditarycomponent~15-20%are“familial”/multifactorial~70-75%arethoughttobesporadicHereditaryBreast/OvarianCAOccursinmultiplegenerationsYoungeragesofonset(often<50)Bilateralcancerormultiplepri

6、mariescommonFamilyhistoryofuniquetumorcombinationse.g.sarcoma,breast,braininsamefamilye.g.malebreastcancer,ovarian/breaste.g.breast,thyroid,uterinecancerHereditaryBreastandOvarianCA(HBOC)5-10%ofallcasesofbreastandovariancancerAbout70to85%ofHBOCcasesa

7、recausedbymutationsineithertheBRCA1orBRCA2geneGenetictestingforBRCA1andBRCA2genemutationsisavailabletowomenwithfamilyhistorymeeting“hereditarybreastcancer”criteriaEachcellhastwocopiesofBRCA1andBRCA2BRCA2BRCA1BRCA1/2MutationIncidence1in800womenintheg

8、eneralpopulation5-10%ofallwomenwithbreastCA~18%ofwomenwithbreastCA<50andonecloserelativewithbreastCA<502%ofallwomenofAshkenaziJewishancestryBRCA1/2Mutations:CancerRisksBRCA1BRCA2Breastcancertoage8050-85%50-85%Ovariancancertoage8020-60%upto27%Malebrea