医学遗传学英文版.pptx

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CancerGeneticsMedicalGenetics

Cancerisaclassofdiseasescausedbylossofcellcyclecontrol.CancerInanimals,cellnumbersareunderexquisitecontrolLossofthiscontrolleadstoproliferationofunwantedcellsCancerariseswhentheabovesituationreachesacertaindegree

CancerTumorCancercellsaremalignanttumor(vs.benigntumor)cellsAllcancercellsareeventuallycapableofmetastasis

CancerFamilyUnusuallylargenumbersofbloodrelativesdevelopcertainkindsofcancers.

LynchCancerFamilySyndromeⅡ“FamilyG”:ItalianfamilyWarthinAS.Hereditywithreferencetocarcinoma.Arch.Intern.Med.1913.12:546-555HauserIJ,WellerC.VAfurtherreportonthecancerfamilyofWarthin.Am.J.Cancer.1936.27:434-449LynchHT,KrushAJ.CancerfamilyGrevisited:1895-1970.Cancer.1971.27:1505-1511

LynchCancerFamilySyndromeⅡ“FamilyG”:ItalianfamilyMIM114400

LynchCancerFamilySyndromeⅡHNPCC:18q11-q12Adenocarcinomasofthecolon“FamilyG”:ItalianfamilyCarcinomaofendometriumGastriccancer,ovarycancer,breastcancer

Li-FraumeniSyndromeStudiesbyLiandFraumeniledtofirstevidenceofinheritedpredispositiontocancer.(MIM151623)BreasttumorsSarcoma,leukemia,lungcancer,andadrenalcorticalcarcinoma

CancerFamilyEarlierageofonsetMultiplecloserelativesaffectedMultipleprimarytumours/bilateraldiseaseMultipletumoursinspecificcancersyndrome

InheritedCancerRetinoblastoma,RB(MIM180200)Retinoblastomaoccurssporadicallyinmostcases,butinsomefamiliesitdisplaysautosomaldominantinheritance.

RetinoblastomaAraremalignanttumorofthedevelopingretinathatoccursinchildren,usuallybeforetheageoffouryears.Anabnormalappearanceofthepupilwhichreflectslightlikeacatseye.

RetinoblastomaAraremalignanttumorofthedevelopingretinathatoccursinchildren,usuallybeforetheageoffouryears.Anabnormalappearanceofthepupilwhichreflectslightlikeacatseye.Someformsrepresent

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