A case of a child with an APC pathogenic mutation, aberrant expression of splice variants and positive family history of FAP.
Jpn J Clin Oncol
; 44(6): 602-6, 2014 Jun.
Article
em En
| MEDLINE
| ID: mdl-24823678
ABSTRACT
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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Colonoscopia
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Mutação em Linhagem Germinativa
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Polipose Adenomatosa do Colo
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Proteína da Polipose Adenomatosa do Colo
Tipo de estudo:
Prognostic_studies
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Screening_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article