YourIPaddress23.229.126.225hasbeenblockedbecausewasidentifiedasacrawler.Pleasenotethatthetermsofserviceandtherobots.txtfiledisallowsthecrawlingofthesite.SeeOMIMAgreementandrobots.txtformoreinformation.-Ifyouareacommercialorafor-profitentitypleaseapplyforanOMIMlicensebysubmittinganappropriateAPIKeyRequest.-ForothercasespleasecontactusandincludeinthecommentfieldyourblockedIP23.229.126.225addressalongwithanyextratechnicaldetailsthatyouthinkmaybehelpful.PleasenotethatfailuretoincludetheIPaddressmayresultinyourinquirytobeignored.PleaseNote:-AnumberofdatafileareavailablefordownloadatOMIMDownloadspage.-WehaveanAPIyoucanlearnaboutatOMIMAPIAccessRequestpageandOMIMAPIHelppage,thatprovidesaccesstothedatainXML,JSON,PythonandRubyformats.-YoushouldfeelfreetocontactusatOMIMContactUspagetofigureoutthebestapproachtogettingthedatayouneed.

YouAreHere:Home→Genetics→GeneticConditions→Li-FraumenisyndromeURLofthispage:https://medlineplus.gov/genetics/condition/li-fraumeni-syndrome/Li-FraumenisyndromeFromGeneticsHomeReference.LearnmoreDescriptionLi-Fraumenisyndromeisararedisorderthatgreatlyincreasestheriskofdevelopingseveraltypesofcancer,particularlyinchildrenandyoungadults.ThecancersmostoftenassociatedwithLi-Fraumenisyndromeincludebreastcancer,aformofbonecancercalledosteosarcoma,andcancersofsofttissues(suchasmuscle)calledsofttissuesarcomas.Othercancerscommonlyseeninthissyndromeincludebraintumors,cancersofblood-formingtissues(leukemias),andacancercalledadrenocorticalcarcinomathataffectstheouterlayeroftheadrenalglands(smallhormone-producingglandsontopofeachkidney).SeveralothertypesofcanceralsooccurmorefrequentlyinpeoplewithLi-Fraumenisyndrome.AverysimilarconditioncalledLi-Fraumeni-likesyndromesharesmanyofthefeaturesofclassicLi-Fraumenisyndrome.Bothconditionssignificantlyincreasethechancesofdevelopingmultiplecancersbeginninginchildhood;however,thepatternofspecificcancersseeninaffectedfamilymembersisdifferent.FrequencyLi-Fraumenisyndromeisthoughttooccurin1in5,000to1in20,000peopleworldwide.CausesLi-FraumenisyndromeisassociatedwithmutationsintheTP53gene.Nearlythree-quartersoffamilieswithLi-Fraumenisyndromeandaboutone-quarterwithLi-Fraumeni-likesyndromehavegermlinemutationsintheTP53gene.Germlinemutationsaretypicallyinheritedandarepresentinessentiallyeverycellinthebody.TP53isatumorsuppressorgene,whichmeansthatitnormallyhelpscontrolthegrowthanddivisionofcells.Mutationsinthisgenecanallowcellstodivideinanuncontrolledwayandformtumors.OthergeneticandenvironmentalfactorsarealsolikelytoaffecttheriskofcancerinpeoplewithTP53mutations.AfewfamilieswithcancerscharacteristicofLi-FraumenisyndromeandLi-Fraumeni-likesyndromedonothaveTP53mutations.Thegeneticfactorsinvolvedinthesecasesareunclear.LearnmoreaboutthegeneassociatedwithLi-FraumenisyndromeTP53AdditionalInformationfromNCBIGene:CHEK2InheritanceLi-Fraumenisyndromeisinherite

YouAreHere:Home→Genetics→Genes→TP53geneURLofthispage:https://medlineplus.gov/genetics/gene/tp53/TP53genetumorproteinp53FromGeneticsHomeReference.LearnmoreNormalFunctionTheTP53geneprovidesinstructionsformakingaproteincalledtumorproteinp53(orp53).Thisproteinactsasatumorsuppressor,whichmeansthatitregulatescelldivisionbykeepingcellsfromgrowinganddividing(proliferating)toofastorinanuncontrolledway.Thep53proteinislocatedinthenucleusofcellsthroughoutthebody,whereitattaches(binds)directlytoDNA.WhentheDNAinacellbecomesdamagedbyagentssuchastoxicchemicals,radiation,orultraviolet(UV)raysfromsunlight,thisproteinplaysacriticalroleindeterminingwhethertheDNAwillberepairedorthedamagedcellwillself-destruct(undergoapoptosis).IftheDNAcanberepaired,p53activatesothergenestofixthedamage.IftheDNAcannotberepaired,thisproteinpreventsthecellfromdividingandsignalsittoundergoapoptosis.BystoppingcellswithmutatedordamagedDNAfromdividing,p53helpspreventthedevelopmentoftumors.Becausep53isessentialforregulatingDNArepairandcelldivision,ithasbeennicknamedthe"guardianofthegenome."HealthConditionsRelatedtoGeneticChangesBreastcancerInheritedchangesintheTP53genegreatlyincreasetheriskofdevelopingbreastcancer,aswellasseveralotherformsofcancer,aspartofararecancersyndromecalledLi-Fraumenisyndrome(describedbelow).Thesemutationsarethoughttoaccountforonlyasmallfractionofallbreastcancercases.Noninherited(somatic)mutationsintheTP53genearemuchmorecommonthaninheritedmutations,occurringin20to40percentofallbreastcancers.Thesesomaticmutationsareacquiredduringaperson'slifetimeandarepresentonlyincellsthatbecomecancerous.Thecancersassociatedwithsomaticmutationsdonotoccuraspartofacancersyndrome.Mostofthesemutationschangesingleproteinbuildingblocks(aminoacids)inthep53protein,whichreducesoreliminatestheprotein'stumorsuppressorfunction.Thisalteredp53proteincannotregulatecellproliferationeffectively.Specifically,itisunabletotriggerapoptosisincellswithmutatedordamagedDNA.Asaresult,DNAdamagecanaccumulateincells.Suchcellsmayconti

Li-Fraumeni-like syndrome (LFL) is defined as a proband with any childhood cancer, or a sarcoma, brain tumor, or adrenocortical tumor before the age of 45 years, ...YourIPaddress185.164.56.157hasbeenblockedbecausewasidentifiedasacrawler.Pleasenotethatthetermsofserviceandtherobots.txtfiledisallowsthecrawlingofthesite.SeeOMIMAgreementandrobots.txtformoreinformation.-Ifyouareacommercialorafor-profitentitypleaseapplyforanOMIMlicensebysubmittinganappropriateAPIKeyRequest.-ForothercasespleasecontactusandincludeinthecommentfieldyourblockedIP185.164.56.157addressalongwithanyextratechnicaldetailsthatyouthinkmaybehelpful.PleasenotethatfailuretoincludetheIPaddressmayresultinyourinquirytobeignored.PleaseNote:-AnumberofdatafileareavailablefordownloadatOMIMDownloadspage.-WehaveanAPIyoucanlearnaboutatOMIMAPIAccessRequestpageandOMIMAPIHelppage,thatprovidesaccesstothedatainXML,JSON,PythonandRubyformats.-YoushouldfeelfreetocontactusatOMIMContactUspagetofigureoutthebestapproachtogettingthedatayouneed.

YouAreHere:Home→MedicalTests→TP53GeneticTestURLofthispage:https://medlineplus.gov/lab-tests/tp53-genetic-test/TP53GeneticTestWhatisaTP53genetictest?ATP53genetictestlooksforachange,knownasamutation,inagenecalledTP53(tumorprotein53).Genesarethebasicunitsofhereditypasseddownfromyourmotherandfather.TP53isagenethathelpsstopthegrowthoftumors.It'sknownasatumorsuppressor.Atumorsuppressorgeneworkslikethebrakesonacar.Itputsthe"brakes"oncells,sotheydon'tdividetooquickly.IfyouhaveaTP53mutation,thegenemaynotbeabletocontrolthegrowthofyourcells.Uncontrolledcellgrowthcanleadtocancer.ATP53mutationcanbeinheritedfromyourparents,oracquiredlaterinlifefromtheenvironmentorfromamistakethathappensinyourbodyduringcelldivision.AninheritedTP53mutationisknownasLi-Fraumenisyndrome.Li-Fraumenisyndromeisararegeneticconditionthatcanincreaseyourriskofcertaintypesofcancers.Thesecancersincludebreastcancer,bonecancer,leukemia,andsofttissuecancers,alsocalledsarcomas.Acquired(alsoknownassomatic)TP53mutationsaremuchmorecommon.Thesemutationshavebeenfoundinabouthalfofallcasesofcancer,andinmanydifferenttypesofcancer.Othernames:TP53mutationanalysis,TP53fullgeneanalysis,TP53somaticmutationWhatisitusedfor?ThetestisusedtolookforaTP53mutation.Itisnotaroutinetest.Itisusuallygiventopeoplebasedonfamilyhistory,symptoms,orpreviousdiagnosisofcancer.WhydoIneedaTP53genetictest?YoumayneedaTP53testif:You'vebeendiagnosedwithaboneorsofttissuecancerbeforetheageof45You'vebeendiagnosedwith,pre-menopausalbreastcancer,abraintumor,leukemia,orlungcancerbeforetheageof46You'vehadoneormoretumorsbeforetheageof46OneormoreofyourfamilymembershavebeendiagnosedwithLi-Fraumenisyndromeand/orhavehadcancerbeforetheageof45ThesearesignsyoumayhaveaninheritedmutationoftheTP53gene.Ifyou'vebeendiagnosedwithcanceranddon'thaveafamilyhistoryofthedisease,yourhealthcareprovidermayorderthistesttoseeifaTP53mutationmaybecausingyourcancer.Knowingwhetheryouhavethemutationcanhelpyourproviderplantreatmentandpredictthelikelyoutcomeofyourdisease.Whathappensduringa

Trait Document. PrintSave to PDF. My46 Logo. Trait Profile. Gene Reviews. Li-Fraumeni syndrome. Other Names: SBLA syndrome (Sarcoma, Breast, Leukemia ...TraitDocumentPrintSavetoPDFTraitProfileGeneReviewsLi-FraumenisyndromeOtherNames:SBLAsyndrome(Sarcoma,Breast,LeukemiaandAdrenalGland)Li-Fraumenisyndromeisararegeneticconditionwhereindividualshaveanincreasedchanceofdevelopingmanydifferenttypesofcancer.ItiscausedbymutationsintheTP53genewhichmakesaproteincalledtumorproteinp53.CharacteristicsofLi-FraumenisyndromeLi-Fraumenisyndrome(LFS)isageneticconditionthatincreasestheriskofdevelopingmanytypesofcancer.TherearetwoformsofLFS:theclassicformofLFSandLi-Fraumeni-like(LFL)syndrome.LFLsyndromesharesonlysomeofthefeaturesofLFS.LFSisassociatedwithanincreasedriskfordifferentcancersincludingpre-menopausalbreastcancer,lungcancer,boneandsofttissuesarcomas,leukemia,lymphoma,braintumors,andadrenocorticalcancer.Othercancerrisksincludeovarian,colon,skin,prostate,endometrial,stomach,andthyroidcancer.Theriskofdevelopingcancerbytheageof30yearsis50%andbytheageof80yearsis73-100%.IndividualswithLFSalsohaveanincreasedrisktodevelopmultiplecancers.Theoverallrisktodevelopasecondcancerisabout57%andthechancetodevelopathirdcanceris38%.TheincidenceofthesecancersinindividualswithLFSvariesdependingonage.Sarcomas,adrenocorticalcarcinomas,andbraintumors(especiallychoroidplexustumors)aremostcommonbeforeage10.Bonesarcomasarefrequentlyseenintheteenageyears,andbreastcancerandotherbraintumorsareseenaftertheageof20.Diagnosis/TestingLFScanbediagnosedeitherbymeetingcertainclinicalcriteriaorbygenetictestingforachangeormutationintheTP53gene.Thisgenemakesaproteincalledtumorproteinp53thatplaysanimportantroleincontrollingcellgrowth.MutationsinTP53geneallowforuncontrolledcellgrowthleadingtothecancersassociatedwithLFS.ThisistheonlygeneknowntocauseLFS.Morethan70%ofpatientswithaclinicaldiagnosisofLFSarefoundtohaveamutationinthisgene.Management/SurveillanceBecauseofthewiderangeofcancersseeninLFS,thereiscurrentlynostandards

ScrollToTopAboutNewsEventsContactPODCASTStoredonateMenuforPatientsandFamiliesInformation&ResourcesRareDiseaseInformationRareDiseaseVideoLibraryPatientandCaregiverResourceCenterInformationonClinicalTrialsandResearchStudiesCOVID-19ResourcesHelptoAccessMedicationsPatientAssistanceProgramsOtherFinancialAssistanceConnectwithOthersFindaPatientOrganizationRareDiseaseDay®PatientStoriesTakeActionAttendEventsAdvocateSupportCloseforPatientOrganizationsJoinMembershipNetworkValueofMembershipMembershipCriteriaApplyforMembershipNonprofitResourcesMemberResourcesRareLaunch®WebinarSeriesCOVID-19RapidResponseLeadershipSeriesOtherWaystoPartnerGrowyourorganizationPatientRegistriesAdvocacyRareDiseaseDay®RDCA-DAPMembershipProfilesAboutourMembersMemberListRareCancerCoalitionCloseforCliniciansandResearchersResourcesResourcesforMedicalProfessionalsRareDiseaseInformationResourcesforyourPatientsContinuingMedicalEducationResearchOpportunitiesResearchGrantProgramRequestsforProposalsResearchGrantRecipientsConnectLendYourExpertiseRareDiseaseDay®CloseNORDRareDiseaseAdvocacyNORD’sPolicyinActionIssueOverviewsNORDontheIssuesPolicySteeringCommitteeNORDStateReportCardNationalPartnershipsTakeActionLocallyJointheRareActionNetwork®ProjectRDACContactYourRepresentativesTakeActionRareInsights®RareInsights®5MythsAboutOrphanDrugsandtheOrphanDrugActCloseGetInvolvedDonateNowGiveWaystoGiveDonatetoResearchNORD®StoreEducateEducationalInitiativesRaiseAwarenessIdentifyRareDiseaseExpertsJoinParticipateinEventsBecomeaMemberRareCancerCoalitionEmploymentOpportunitiesCorporateCouncilAbouttheCorporateCouncilCurrentMembersCouncilCodeofConductJointheCouncilCloseHome/ForPatientsandFamilies/RareDiseaseInformation/Li-FraumeniSyndromeRareDiseaseDatabase0-9•A•B•C•D•E•F•G•H•I•J•K•L•M•N•O•P•Q•R•S•T•U•V•W•X•Y•ZPrintLi-FraumeniSyndromeNORDgratefullyacknowledgesChristianKratz,MD,DepartmentHeadofPediatricHematologyandOncology,HannoverMedicalSchool,Li-FraumeniSyndromeAssociationMedicalAdvisoryBoardMemberandGermanyChapterCo-chair;RobertLu

Li-Fraumeni Syndrome. Review. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.Clipboard,SearchHistory,andseveralotheradvancedfeaturesaretemporarilyunavailable.SkiptomainpagecontentCOVID-19isanemerging,rapidlyevolvingsituation.Publichealthinformation(CDC)Researchinformation(NIH)SARS-CoV-2data(NCBI)Preventionandtreatmentinformation(HHS) AccesskeysNCBIHomepageMyNCBIHomepageMainContentMainNavigationSearch:SearchAdvancedClipboardUserGuideSaveEmailSendtoClipboardMyBibliographyCollectionsCitationmanagerDisplayoptionsDisplayoptionsFormatAbstractPubMedPMIDSavecitationtofileFormat:Summary(text)PubMedPMIDAbstract(text)CSVCreatefileCancelEmailcitationSubject:1selecteditem:20301488-PubMedTo:Format:SummarySummary(text)AbstractAbstract(text)MeSHandotherdataSendemailCancelAddtoCollectionsCreateanewcollectionAddtoanexistingcollectionNameyourcollection:Namemustbelessthan100charactersChooseacollection:UnabletoloadyourcollectionduetoanerrorPleasetryagainAddCancelAddtoMyBibliographyMyBibliographyUnabletoloadyourdelegatesduetoanerrorPleasetryagainAddCancelYoursavedsearchNameofsavedsearch:Searchterms:TestsearchtermsWouldyoulikeemailupdatesofnewsearchresults?SavedSearchAlertRadioButtonsYesNoEmail:(change)Frequency:MonthlyWeeklyDailyWhichday?ThefirstSundayThefirstMondayThefirstTuesdayThefirstWednesdayThefirstThursdayThefirstFridayThefirstSaturdayThefirstdayThefirstweekdayWhichday?SundayMondayTuesdayWednesdayThursdayFridaySaturdayReportformat:SummarySummary(text)AbstractAbstract(text)PubMedSendatmost:1item5items10items20items50items100items200itemsSendevenwhentherearen'tanynewresultsOptionaltextinemail:SaveCancelCreateafileforexternalcitationmanagementsoftwareCreatefileCancelYourRSSFeedNameofRSSFeed:Numberofitemsdisplayed:510152050100CreateRSSCancelRSSLinkCopyFulltextlinksGeneReviews®[Internet]NCBIBookshelfFulltextlinksActionsCiteFavoritesDisplayoptionsDisplayoptionsFormatAbstractPubMedPMIDSharePermalinkCopyPagenavigationTitle&authorsExcerptSectionsSim

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has ...SkiptomaincontentThankyouforvisitingnature.com.YouareusingabrowserversionwithlimitedsupportforCSS.Toobtainthebestexperience,werecommendyouuseamoreuptodatebrowser(orturnoffcompatibilitymodeinInternetExplorer).Inthemeantime,toensurecontinuedsupport,wearedisplayingthesitewithoutstylesandJavaScript.AdvertisementnatureeuropeanjournalofhumangeneticsarticlesarticleGuidelinesfortheLi–FraumeniandheritableTP53-relatedcancersyndromesDownloadPDFSubjectsCancerscreeningRiskfactorsAbstractFiftyyearsaftertherecognitionoftheLi–Fraumenisyndrome(LFS),ourperceptionofcancersrelatedtogermlinealterationsofTP53hasdrasticallychanged:(i)germlineTP53alterationsareoftenidentifiedamongchildrenwithcancers,inparticularsoft-tissuesarcomas,adrenocorticalcarcinomas,centralnervoussystemtumours,oramongadultfemaleswithearlybreastcancers,withoutfamilialhistory.ThisjustifiestheexpansionoftheLFSconcepttoawidercancerpredispositionsyndromedesignatedheritableTP53-relatedcancer(hTP53rc)syndrome;(ii)theinterpretationofgermlineTP53variantsremainschallengingandshouldintegrateepidemiological,phenotypical,bioinformaticsprediction,andfunctionaldata;(iii)thepenetranceofgermlinedisease-causingTP53variantsisvariable,dependingbothonthetypeofvariant(dominant-negativevariantsbeingassociatedwithahighercancerrisk)andonmodifyingfactors;(iv)whole-bodyMRI(WBMRI)allowsearlydetectionoftumoursinvariantcarriersand(v)incancerpatientswithgermlinedisease-causingTP53variants,radiotherapy,andconventionalgenotoxicchemotherapycontributetothedevelopmentofsubsequentprimarytumours.ItiscriticaltoperformTP53testingbeforetheinitiationoftreatmentinordertoavoidincarriers,ifpossible,radiotherapyandgenotoxicchemotherapies.Inchildren,therecommendationsaretoperformclinicalexaminationandabdominalultrasoundevery6months,annualWBMRIandbrainMRIfromthefirstyearoflife,iftheTP53variantisknowntobeassociatedwithchildho