Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations. It is also known as Turcot ...MismatchrepaircancersyndromeFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchMismatchrepaircancersyndromeOthernamesBraintumor-polyposissyndrome,Glioma-polyposissyndromeThisconditionisinheritedinanautosomalrecessivemannerSpecialtyOncologyMismatchrepaircancersyndrome(MMRCS)isacancersyndromeassociatedwithbiallelicDNAmismatchrepairmutations.[1]ItisalsoknownasTurcotsyndrome(afterJacquesTurcot,whodescribedtheconditionin1959)andbyseveralothernames.[1]InMMRCS,neoplasiatypicallyoccursinboththegutandthecentralnervoussystem(CNS).[1]Inthelargeintestine,multiplecolonicpolypsdevelop;intheCNS,braintumors.Contents1Genetics2Diagnosis3Treatment4History5Seealso6References7ExternallinksGenetics[edit]Underthenameconstitutionalmismatchrepair-deficiency,(CMMR-D),ithasbeenmappedtoMLH1,MSH2,MSH6orPMS2.[2]MonoallelicmutationsofthesegenesareobservedintheconditionknownasLynchsyndromeorhereditarynonpolyposiscolorectalcancer,whilebiallelicmutationsareobservedinCMMR-D.[3]PeopleexpressingtheHNPCC(whichitselfisconsideredautosomaldominant)traitareconsideredcarriersofCMMR-D,thusCMMR-Disclassifiedasautosomalrecessive.[citationneeded]Theterm"childhoodcancersyndrome"hasalsobeenproposed.[4][5]Café-au-laitmaculeshavebeenobserved.[6]Diagnosis[edit]ChildhoodtoearlyadultonsetHNPCC+malignantgliomas.Thepolypsdevelopedtendtobelarger,fewer,andprogresstomalignancyearlierthanthoseseeninfamilialadenomatouspolyposis,[1]aclinicallysimilarconditionwithdifferentunderlyingmutations.Diagnostictestingconsistsofabloodsamplebeingcollected,andageneticspecialistcomparestwocopiesofapatient'sgenetonormalMMRgenes.Iftherearedifferencesinthegenes,thespecialistsareabletofurthertestanddecideifthepatienthasthedeficiency.[7]Treatment[edit]Thissectionisempty.Youcanhelpbyaddingtoit.(July2017)History[edit]OMIMcurrentlyincludes"Turcotsyndrome"underMismatchrepaircancersyndrome.Turco