Li–Fraumeni syndrome | li-fraumeni syndrome

Li–FraumenisyndromeFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchLi–FraumenisyndromeOthernamesSarcomafamilysyndromeofLiandFraumeniLi–FraumenisyndromeisinheritedviaanautosomaldominantmannerSpecialtyOncology,medicalgenetics,neurology Li–Fraumenisyndromeisarare,autosomaldominant,hereditarydisorder[1]thatpredisposescarrierstocancerdevelopment.ItwasnamedaftertwoAmericanphysicians,FrederickPeiLiandJosephF.Fraumeni,Jr.,whofirstrecognizedthesyndromeafterreviewingthemedicalrecordsanddeathcertificatesof648childhoodrhabdomyosarcomapatients.[2]Thissyndromeisalsoknownasthesarcoma,breast,leukaemiaandadrenalgland(SBLA)syndrome.Thesyndromeislinkedtogermlinemutationsofthep53tumorsuppressorgene,[3]whichencodesatranscriptionfactor(p53)thatnormallyregulatesthecellcycleandpreventsgenomicmutations.Themutationscanbeinherited,orcanarisefrommutationsearlyinembryogenesis,orinoneoftheparent'sgermcells.Contents1Presentation2Pathology2.1Clinical3Diagnosis4Management4.1Chompretcriteria4.2Recommendations4.3Suggestions5Epidemiology6Seealso7References8Furtherreading9ExternallinksPresentation[edit]Li–Fraumenisyndromeischaracterizedbyearlyonsetofcancer,awidevarietyoftypesofcancers,anddevelopmentofmultiplecancersthroughoutone'slife.[4]Pathology[edit]Thissectionneedsadditionalcitationsforverification.Pleasehelpimprovethisarticlebyaddingcitationstoreliablesources.Unsourcedmaterialmaybechallengedandremoved.(February2016)(Learnhowandwhentoremovethistemplatemessage)LFS1:MutationsinTP53Normalconditions:[citationneeded]TP53isatumorsuppressorgeneonchromosome17thatnormallyassistsinthecontrolofcelldivisionandgrowththroughactiononthenormalcellcycle.TP53typicallybecomeexpressedduetocellularstressors,suchasDNAdamage,andcanhaltthecellcycletoassistwitheithertherepairofrepairableDNAdamage,orcaninduceapoptosisofacellwithirreparabledamage.Therepairof"bad"DNA,ortheapoptosisofacell,preventstheproliferationofdamagedcells.[citationneeded]Mutantconditions:MutationsofTP53caninhibititsnormalfunction,andallowcel

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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 ...