Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition
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چکیده
منابع مشابه
Analysis of Small Fragment Deletions of the APC gene in Chinese Patients with Familial Adenomatous Polyposis, a Precancerous Condition.
BACKGROUND Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease mainly caused by mutations of the adenomatous polyposis coli (APC) gene with almost complete penetrance. These colorectal polyps are precancerous lesions that will inevitable develop into colorectal cancer at the median age of 40-year old if total proctocolectomy is not performed. So identification of APC...
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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, ...
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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...
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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 کاملGenotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis.
Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A m...
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ژورنال
عنوان ژورنال: Asian Pacific Journal of Cancer Prevention
سال: 2015
ISSN: 1513-7368
DOI: 10.7314/apjcp.2015.16.12.4915