De novo germ-line mutation of APC gene in periampullary carcinoma with familial adenomatous polyps – A novel familial case report in South India
نویسندگان
چکیده
منابع مشابه
Familial 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 کاملA De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review
INTRODUCTION Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype.6 However, there is considerable variability in the expression of ...
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 کاملA Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction
Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...
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: Karbala International Journal of Modern Science
سال: 2016
ISSN: 2405-609X
DOI: 10.1016/j.kijoms.2016.09.002