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dc.contributor.authorHossein Kashfi, SM
dc.contributor.authorGolmohammadi, M
dc.contributor.authorFarahbakhsh, FB
dc.contributor.authorNazemalhos-Seini Mojarad, E
dc.contributor.authorAzimzadeh, P
dc.contributor.authorNorouzinia, M
dc.contributor.authorHaghighi, MM
dc.contributor.authorAkbari, Z
dc.contributor.authorDamavand, B-H
dc.contributor.authorMolaei, M
dc.contributor.authorAnaraki, F
dc.contributor.authorAghdaei, HA
dc.contributor.authorZali, MR
dc.date.accessioned2018-08-26T09:31:22Z
dc.date.available2018-08-26T09:31:22Z
dc.date.issued2015
dc.identifier.urihttp://dspace.tbzmed.ac.ir:8080/xmlui/handle/123456789/57031
dc.description.abstractFamilial adenomatous polyposis (FAP) is an autosomal dominant inherited disease caused by germline mutation in Adenomatous Polyposis Coli (APC) gene. FAP accounts less than 1% of all colorectal cancers incidence. Patients generally present hundreds to thousands of adenomas in colon and rectum and develop colorectal cancer by age 35 -40 if left untreated. A milder form of FAP with fewer numbers of polyps (< 100) is Attenuated FAP (AFAP) and in comparison with classical FAP, it usually diagnosed at an older age. Approximately 15%-20% of FAP patients are ''de novo'' cases without any family history of the disease and novel APC mutations account for approximately 25% of FAP cases. In our study, we reported a novel missense mutation at the APC gene in a denovo patient with AFAP like phenotype. © 2015, Academy of Medical Sciences of I.R. Iran. All rights reserved.
dc.language.isoEnglish
dc.relation.ispartofArchives of Iranian Medicine
dc.subjectadenoma
dc.subjectcase report
dc.subjectchild
dc.subjectcolon polyposis
dc.subjectendoscopy
dc.subjectfemale
dc.subjectgenetics
dc.subjectgermline mutation
dc.subjecthuman
dc.subjectmissense mutation
dc.subjectpathology
dc.subjectphenotype
dc.subjecttumor suppressor gene
dc.subjectAdenoma
dc.subjectAdenomatous Polyposis Coli
dc.subjectChild
dc.subjectEndoscopy
dc.subjectFemale
dc.subjectGenes, APC
dc.subjectGerm-Line Mutation
dc.subjectHumans
dc.subjectMutation, Missense
dc.subjectPhenotype
dc.titleNovel missense mutation at codon 2774 (C.8321 G>A) p.S2774n of APC gene in a denovo case of familial adenomatous polyposis
dc.typeArticle
dc.citation.volume18
dc.citation.issue7
dc.citation.spage446
dc.citation.epage449
dc.citation.indexScopus


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