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.NCBISkiptomaincontentSkiptonavigationResourcesHowToAboutNCBIAccesskeysMyNCBISignintoNCBISignOutJournalListGenesCancerv.2(4);2011AprPMC3135649GenesCancer.2011Apr;2(4):475–484.doi: 10.1177/1947601911413466PMCID:PMC3135649PMID:21779515Li-FraumeniSyndromeMonographsEditor:ArnoldJ.LevineDavidMalkinAuthorinformationCopyrightandLicenseinformationDisclaimerDivisionofHematology/Oncology,DepartmentofPediatrics,TheHospitalforSickChildren,Toronto,ON,CanadaDavidMalkin,DivisionofHematology/Oncology,DepartmentofPediatrics,TheHospitalforSickChildren,555UniversityAvenue,Toronto,ON,CanadaM5G1X8Email:[email protected]©TheAuthor(s)2011ThisarticlehasbeencitedbyotherarticlesinPMC.Li-Fraumenisyndrome(LFS)isaclassiccancerpredispositiondisorderthatiscommonlyassociatedwithgermlinemutationsofthep53tumorsuppressorgene.Examinationofthewidespectrumofadult-onsetandchildhoodcancersandthedistributionofp53mutationshasledtoagreaterunderstandingofcancergenotype-phenotypecorrelations.However,thecomplexLFSphenotypeisnotreadilyexplainedbythesimpleidentificationofgermlinep53mutationsinaffectedindividuals.RecentworkhasidentifiedgeneticeventsthatmodifytheLFSphenotype.Theseincludeintragenicpolymorphisms,mutations/polymorphismsofgenesinthep53regulatorypathway,aswellasmoreglobaleventssuchasaberrantcopynumbervariationandtelomereattrition.Thesegeneticeventsmay,inpart,explainthebreadthoftumorhistiotypeswithinandacrossLFSfamilies,theapparentacceleratedageofonsetwithinfamilies,andtherangeofclinicaloutcomesamongaffectedfamilymembers.ThisreviewwillexaminetheclinicalandgeneticdefinitionsofLFSandofferinsightintohowlessonslearnedfromthestudyofthisraredisordermayinformsimilarquestionsinotherfamilialcancersyndromes.Keywords:Li-Fraumenisyndrome,cancerpredisposition,germlinep53mutationsIn1969,aremarkablecancerpredispositionsyndromewasreportedbyLiandFraumen

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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 ...