APC germline mutations in families with familial adenomatous polyposis

dc.creatorRossanese, LBD
dc.creatorMarson, FAD
dc.creatorRibeiro, JD
dc.creatorCoy, CSR
dc.creatorBertuzzo, CS
dc.date2013
dc.dateNOV
dc.date2014-08-01T18:22:50Z
dc.date2015-11-26T17:55:27Z
dc.date2014-08-01T18:22:50Z
dc.date2015-11-26T17:55:27Z
dc.date.accessioned2018-03-29T00:39:15Z
dc.date.available2018-03-29T00:39:15Z
dc.identifierOncology Reports. Spandidos Publ Ltd, v. 30, n. 5, n. 2081, n. 2088, 2013.
dc.identifier1021-335X
dc.identifierWOS:000324540300010
dc.identifier10.3892/or.2013.2681
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/78017
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/78017
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1291046
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionAdenomatous polyposis coli (APC) germline mutations are responsible for the occurrence of familial adenomatous polyposis (FAP). Somatic mutations lead to malignant transformation of adenomas. In this context, considering the significance of APC germline mutations in FAP, we aimed to identify APC germline mutations. In the present study, 20 FAP patients were enrolled. The determination of APC germline mutations was performed using sequencing, and the mutations were compared with clinical markers (gender, age at diagnosis, smoking habits, TNM stage, Astler-Coller stage, degree of differentiation of adenocarcinoma). The data were compared using the SPSS program, with the Fisher's exact test and chi(2) test, considering alpha=0.05. According to the main results in our sample, 16 alleles with deleterious mutations (80% of the patients) were identified while 7 (35%) patients had no deleterious mutations. There was a predominance of nonsense (45% of the patients) and frameshift (20% of the patients) mutations. There was no statistical significance between the APC germline mutations identified and the clinical variables considered in our study. Only TNM stage was associated with the presence of deleterious mutations. Patients with deleterious mutations had an OR, 0.086 (IC=0.001-0.984); TNM stage I + II in comparison with III + IV, when compared with the patients with no deleterious mutations identified. In this context, as a conclusion, we demonstrated the molecular heterogeneity of APC germline mutations in FAP and the difficulty to perform molecular diagnostics in a Brazilian population, considering the admixed population analyzed.
dc.descriptionO TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE FEVEREIRO DE 2015.
dc.description30
dc.description5
dc.description2081
dc.description2088
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.languageen
dc.publisherSpandidos Publ Ltd
dc.publisherAthens
dc.publisherGrécia
dc.relationOncology Reports
dc.relationOncol. Rep.
dc.rightsembargo
dc.sourceWeb of Science
dc.subjectgermline mutations
dc.subjectfamilial adenomatous polyposis
dc.subjecttumor lymph node metastasis
dc.subjectAstler-Coller
dc.subjectcancer
dc.subjectColi Gene
dc.subjectColorectal Adenomas
dc.subjectCancer
dc.subjectVariants
dc.subjectE1317q
dc.subjectI1307k
dc.subjectTumors
dc.subjectRisk
dc.titleAPC germline mutations in families with familial adenomatous polyposis
dc.typeArtículos de revistas


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