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Germline MUTYH (MYH) mutations in portuguese individuals with multiple colorectal adenomas

2004Journal article Open access
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dc.contributor.authorIsidro, Glória
dc.contributor.authorLaranjeira, Francisco
dc.contributor.authorPires, Ana
dc.contributor.authorLeite, Júlio
dc.contributor.authorRegateiro, Fernando
dc.contributor.authorSousa, F. Castro
dc.contributor.authorSoares, José
dc.contributor.authorCastro, Clara
dc.contributor.authorGiria, João
dc.contributor.authorBrito, Maria J.
dc.contributor.authorMedeira, Ana
dc.contributor.authorTeixeira, Ricardo
dc.contributor.authorMorna, Henrique
dc.contributor.authorGaspar, Isabel
dc.contributor.authorMarinho, Carla
dc.contributor.authorJorge, Rosa
dc.contributor.authorBrehm, António
dc.contributor.authorRamos, J. Silva
dc.contributor.authorBoavida, Maria Guida
dc.date.accessioned2022-07-28T10:27:28Z
dc.date.available2022-07-28T10:27:28Z
dc.date.issued2004
dc.description.abstractGerminal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyposis is an autosomal recessive disease. The identification of individuals affected by MYH polyposis brings new and important implications for the diagnostic, screening, genetic counseling, follow up and therapeutic options in these patients. In this study, screening for germinal mutations in the MYH gene was performed in 53 Portuguese individuals with multiple colorectal adenomas or classic adenomatous polyposis, in whom no mutation had been identified in the APC gene. The results revealed the presence of biallelic germline MYH mutations in 21 patients. In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described. © 2004 Wiley-Liss, Incpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationIsidro, G., Laranjeira, F., Pires, A., Leite, J., Regateiro, F., e Sousa, F. C., ... & Boavida, M. G. (2004). Germline MUTYH (MYH) mutations in portuguese individuals with multiple colorectal adenomas. Human mutation, 24(4), 353-354. 10.1002/humu.9282pt_PT
dc.identifier.doi10.1002/humu.9282pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/4472
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAPCpt_PT
dc.subjectMYHpt_PT
dc.subjectMUTYHpt_PT
dc.subjectColorectal adenomapt_PT
dc.subjectFAPpt_PT
dc.subjectPolyposispt_PT
dc.subjectPortugalpt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleGermline MUTYH (MYH) mutations in portuguese individuals with multiple colorectal adenomaspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage354pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage353pt_PT
oaire.citation.titleHuman Mutationpt_PT
oaire.citation.volume24pt_PT
person.familyNameBrehm
person.givenNameAntonio
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-idAuthor ID 7006085833
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication62d279e2-247a-4652-a370-3e8c2a846e31
relation.isAuthorOfPublication.latestForDiscovery62d279e2-247a-4652-a370-3e8c2a846e31

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