P-225 Mutation detection rate among patients with adenomatous polyposis
نویسندگان
چکیده
منابع مشابه
APC mutation associated with late onset of familial adenomatous polyposis.
Familial adenomatous polyposis is an autosomal dominantly inherited disorder. Mutation studies in the corresponding gene (APC) may provide information for predictive tests for persons at risk in affected families. We report here a new mutation in exon 6 (codon 233) of the APC gene and clinical data in a large family with late onset of the disease in most affected persons.
متن کاملONLINE MUTATION REPORT Novel germline mutations in the adenomatous polyposis coli gene in Polish families with familial adenomatous polyposis
A Plawski, J Lubiński, T Banasiewicz, J Paszkowski, D Lipinski, A Strembalska, G Kurzawski, T Byrski, S Zajaczek, D Hodorowicz-Zaniewska, T Gach, I Brozek, D Nowakowska, E Czkwaniec, P Krokowicz, M Drews, J Zeyland, W Juzwa, R Słomski . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملHepatoblastoma and APC gene mutation in familial adenomatous polyposis.
BACKGROUND Hepatoblastoma is a rare, rapidly progressive, usually fatal childhood malignancy, which if confined to the liver can be cured by radical surgical resection. An association between hepatoblastoma and familial adenomatous polyposis (FAP), which is due to germline mutation of the APC (adenomatous polyposis coli) gene, has been confirmed, but correlation with site of APC mutation has no...
متن کاملHepatoblastoma and APC gene mutation in familial adenomatous polyposis
Background-Hepatoblastoma is a rare, rapidly progressive, usually fatal childhood malignancy, which if confined to the liver can be cured by radical surgical resection. An association between hepatoblastoma and familial adenomatous polyposis (FAP), which is due to germline mutation of the APC (adenomatous polyposis coli) gene, has been confirmed, but correlation with site ofAPC mutation has not...
متن کاملAdenomatous Polyposis Coli Mutation Leads to Myopia Development in Mice
Myopia incidence in China is rapidly becoming a very serious sight compromising problem in a large segment of the general population. Therefore, delineating the underlying mechanisms leading to myopia will markedly lessen the likelihood of other sight compromising complications. In this regard, there is some evidence that patients afflicted with familial adenomatous polyposis (FAP), havean aden...
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ژورنال
عنوان ژورنال: Annals of Oncology
سال: 2015
ISSN: 0923-7534
DOI: 10.1093/annonc/mdv233.222