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Jpn J Clin Oncol ; 44(6): 602-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24823678

RESUMO

Familial adenomatous polyposis is an autosomal dominant hereditary disease characterized by the appearance of hundreds to thousands of colorectal adenomatous polyps; if left untreated, there is nearly a 100% lifetime risk of colorectal cancer. In the present case, adenomatous polyps were observed at 6 years of age. Unlike our previous assumption, adenomatous polyps were detected by colonoscopy at <10 years of age. Considering the clinical importance of early diagnosis, we report this case involving germline adenomatous polyposis coli mutation (c.1958G > C, GenBank: M74088.1) that caused an increase in the isoform without exon 15. Although this isoform has been reported previously, it remains controversial whether the variant is pathogenic or not because it was observed both in patients with familial adenomatous polyposis and in normal controls. Nonetheless, due to quantitative distortion of splice variants in adenomatous polyposis coli transcripts and the early development of adenomatous polyps, we believe that this variant may be pathogenic.


Assuntos
Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/diagnóstico , Polipose Adenomatosa do Colo/genética , Colonoscopia , Mutação em Linhagem Germinativa , Polipose Adenomatosa do Colo/patologia , Polipose Adenomatosa do Colo/cirurgia , Povo Asiático , Criança , Neoplasias do Colo/genética , Predisposição Genética para Doença , Testes Genéticos , Heterozigoto , Humanos , Masculino , Linhagem , Isoformas de Proteínas/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
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