Li-Fraumeni syndrome: MedlinePlus Genetics | li-fraumeni syndrome

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

常見健康問答

延伸文章資訊
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 ...