Li Fraumeni syndrome | li-fraumeni syndrome

Li-Fraumeni syndrome. Disease definition. A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including ...xShareShareRarediseasesSearchClinicalSignsandSymptomsClassificationsGenesDisabilityEncyclopaediaforpatientsEncyclopaediaforprofessionalsEmergencyguidelinesSources/proceduresHomepageRarediseasesSearchSearchforararedisease*(*)mandatoryfieldSearchDiseasenameORPHAcodeOMIMICD-10GenenameorsymbolOthersearchoption(s)AlphabeticallistSuggestanupdate(*)Requiredfields.Youare(*)Choose:HealthprofessionalPatient/Family/AssociationBiopharmaceuticalindustryScientistStudentOtherIfyouhaveselectedtheOthercategory,pleasespecifywhichtypeofuseryouare:*Emailaddress:*Topicofyourcomment*EpidemiologydataSummaryandrelatedtextsRelatedgenesClinicalsignsNomenclatureand/orcodingYourmessage*(3000charactersremaining)AttentionOnlycommentsseekingtoimprovethequalityandaccuracyofinformationontheOrphanetwebsiteareaccepted.Forallothercomments,pleasesendyourremarksviacontactus.OnlycommentswritteninEnglishcanbeprocessed.CheckthisboxifyouwishtoreceiveacopyofyourmessagePleasereproducethetextbelow:*Li-FraumenisyndromeDiseasedefinitionArare,inherited,cancerpredispositionsyndromecharacterizedbytheearly-onsetofmultipleprimarycancersincludingbreastcancer,softtissueandbonesarcomas,braintumors,adrenalcorticalcarcinoma(ACC),leukemias,andothercancers.ORPHA:524Classificationlevel:DisorderSynonym(s):-Prevalence:UnknownInheritance:Autosomaldominant Ageofonset:AllagesICD-10:C97OMIM:151623 609265 609266UMLS:C0085390MeSH:D016864GARD:6902MedDRA:10066795SummaryEpidemiologyMorethan400familieswithLi-Fraumeni(LFS)havebeenreportedintheliterature.TheestimatedprevalenceofpathogenicandlikelypathogenicgermlineTP53mutationsisnotwelldefinedbuthasbeenestimatedtorangebetween1/3,555-5,476.ClinicaldescriptionThecorecancersinLi-Fraumenisyndrome(LFS)areearly-onsetbreastcancer,ACC,softtissuesarcomas,osteosarcomas,andbraintumors.AlsoseeninLFSareleukemias,lymphomas,colorectalcanc

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Li Fraumeni syndrome | li-fraumeni syndrome
Li-Fraumeni syndrome. Disease definition. A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including ...
Li-Fraumeni Syndrome | li-fraumeni syndrome
Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene.
Li-Fraumeni Syndrome | li-fraumeni syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and ...
Li-Fraumeni Syndrome | li-fraumeni syndrome
Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor ...
Li-Fraumeni syndrome | li-fraumeni syndrome
Li-Fraumeni syndrome is an inherited autosomal dominant disorder that is manifested by a wide range of malignancies that appear at an unusually early age [1,2]. Li-Fraumeni syndrome is also known as the Sarcoma, Breast, Leukemia, and Adrenal Gland (SBLA) cancer syndrome.
Li-Fraumeni syndrome: MedlinePlus Genetics | li-fraumeni syndrome
Li-Fraumeni Syndrome | li-fraumeni syndrome
Li-Fraumeni Syndrome | li-fraumeni syndrome
Li–Fraumeni syndrome | li-fraumeni syndrome
What is LFS? | li-fraumeni syndrome
Li-Fraumeni syndrome (LFS) is an inherited familial predisposition to a wide range of certain, often rare, cancers. This is due to a change (mutation) in a tumor ...
Li-Fraumeni syndrome: MedlinePlus Genetics | li-fraumeni syndrome
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young ...
Li–Fraumeni syndrome | li-fraumeni syndrome
Li–Fraumeni syndrome is a rare, autosomal dominant, hereditary disorder that predisposes carriers to cancer development. It was named after two American ...
Li-Fraumeni Syndrome | li-fraumeni syndrome
What is Li-Fraumeni Syndrome?The Li-Fraumeni Syndrome (LFS) is a hereditary cancer predisposition syndrome first reported in 1969 by Drs. Frederick Li and ...