Li-Fraumeni Syndrome | li-fraumeni syndrome

SkiptoContentSearchMenuYouarehereHome>TypesofCancer>Li-FraumeniSyndromeRequestPermissionsLi-FraumeniSyndromeApprovedbytheCancer.NetEditorialBoard,01/2020WhatisLi-FraumeniSyndrome?TheLi-FraumeniSyndrome(LFS)isahereditarycancerpredispositionsyndromefirstreportedin1969byDrs.FrederickLiandJosephFraumenifromtheNationalCancerInstitute.Whatcaughttheirattentionwasthewiderangeofcancersfoundinaffectedfamilies,theinheritedhigherriskofdevelopingcanceracrossseveralgenerations,andtherelativelyearlyageofthecancerdiagnosiswithnearlyhalfofaffectedindividualshavingacancerdiagnosisbeforeage30.ThemostcommontypesofcancerfoundinfamilieswithLFSincludeosteosarcoma(bonecancer),softtissuesarcoma,acuteleukemia,breastcancer,braincancer,andadrenalcorticaltumors,whichinvolvesanorganonthetopofthekidney.Anincreasedriskformelanoma,Wilms'tumor,whichisatypeofkidneycancer,andcancersofthestomach,colon,pancreas,esophagus,lung,andgonadalgermcells(sexorgans)havealsobeenreported.WhatcausesLFS?LFSisahereditarygeneticcondition.Thismeansthatthecancerriskcanbepassedfromgenerationtogenerationinafamily.Thisconditionismostcommonlycausedbyamutation(alteration)inagenecalledTP53,whichisthegeneticblueprintforaproteincalledp53.Themutationtakesawaythegene’sabilitytofunctioncorrectly.Approximately70%offamilieswithLFSwillhaveamutationintheTP53gene.MutationsintheTP53genearealsofoundin22%offamilieswhohaveLi-Fraumeni-likeSyndrome(LFL)byDefinition1andin8%offamilieswhohaveLFLbyDefinition2(seefulldefinitions,below).Mutationsinanothergene,calledCHEK2,havebeenfoundinsomefamilieswithLFS.ItisnotknownwhetherthecancerrisksarethesameinfamiliesthathaveTP53mutationsandCHEK2mutations.However,withtheincreaseinmultiple-genepaneltesting,manycarriersofCHEK2mutationsarebeingidentified,mostwithfarlessincidenceofcancerintheirfamilyhistoriesthanwithLFS.ResearchisongoingtoidentifyothergenesassociatedwithLFSandLFL.HowisLFSinherited?Normally,everycellhas2copiesofeachgene:1inheritedfromthemotherand1inheritedfromthefather.LFSfollowsanautosomaldomina

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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 ...