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 کاملFamilial adenomatous polyposis associated APC gene mutation - A case study
Familial adenomatous polyposis associated APC gene mutation A case study Avinash Bardia, Santosh K. Tiwari, Sandeep K. Vishwakarma, Md. Aejaz Habeeb, Pratibha Nallari, Aleem A. Khan 1 Centre for Liver Research and Diagnostics, Deccan College of Medical Sciences, Kanchanbagh, Hyderabad-500058, Andhra Pradesh, India. 2 Department of Genetics, Osmania University, Hyderabad-500007, Andhra Pradesh, ...
متن کاملSevere upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520.
BACKGROUND Familial adenomatous polyposis usually results in colonic polyposis with hundreds to thousands of polyps, congenital hypertrophy of the retinal pigment epithelium (CHRPE), and variable extracolonic features. Recent reports indicate that patients with distal mutations between codons 1445 and 1578 do not express CHRPE and have a high incidence of desmoid tumours. PATIENTS The family ...
متن کاملAlternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC.
Reverse transcription-PCR combined with either (a) restriction enzyme digestion and repeat PCR or (b) ligase chain reaction has identified two new alternatively spliced transcripts of the adenomatous polyposis coli (APC) gene. In one of these transcripts exons 1-4 and the first 16 bases of exon 5 are deleted; in the other exons 2-4 and the first 16 bases of 5 are deleted. Both transcripts use a...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2020
ISSN: 1768-3262
DOI: 10.4267/2042/70880