نتایج جستجو برای: familial polyposis coli

تعداد نتایج: 208445  

Journal: :Arquivos de gastroenterologia 1992
Raquel Franco Leal Patricia V V Tapia Silva Maria de Lourdes Setsuko Ayrizono João José Fagundes Eliane M Ingrid Amstalden Cláudio Saddy Rodrigues Coy

CONTEXT Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to p...

Journal: :Gut 2002
A-L Moisio H Järvinen P Peltomäki

BACKGROUND Familial adenomatous polyposis (FAP) is a rare autosomal dominantly inherited disease predisposing to colon cancer and caused by germline mutations in the APC (adenomatous polyposis coli) gene. AIMS We conducted a population based study to evaluate the prevalence and clinical implications of APC mutations among Finnish FAP kindreds. A possible founder effect in parallel with previo...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2013

Journal: :caspian journal of internal medicine 0
neha agrawal department of medicine, calcutta national medical college and hospital, kolkata, india tuhin santra department of medicine, calcutta national medical college and hospital, kolkata, india arnab kar . department of medicine, gangarampur subdivisional hospital, india pradipta guha department of medicine, calcutta national medical college and hospital, kolkata, india mita bar kolkata, india apu adhikary department of medicine, north bengal medical college & hospital, india

background: deep vein thrombosis is an important cause of morbidity and mortality. however, its association with adenomatous polyposis coli is extremely rare. here we present an interesting case of deep vein thrombosis associated with adenomatous polyposis coli. case presentation: a 15 year old female who was having fever and diarrhea for 5 months developed bilateral asymmetric painful swelling...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1998
I M Frayling N E Beck M Ilyas I Dove-Edwin P Goodman K Pack J A Bell C B Williams S V Hodgson H J Thomas I C Talbot W F Bodmer I P Tomlinson

Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene. Attenuated adenomatous ...

Journal: :Cancer research 1994
K J Smith D B Levy P Maupin T D Pollard B Vogelstein K W Kinzler

The adenomatous polyposis coli protein (APC) is mutated in familial adenomatous polyposis patients as well as in sporadic colorectal tumors. In an attempt to further understand the function of APC, the subcellular localization of APC was examined. Wild-type and mutant forms of APC were expressed in mammalian cells and protein detected by immunofluorescence using monoclonal and polyclonal antibo...

2017

Colorectal cancer is undoubtedly one of the most genetically studied malignancies. In the past 20 years, substantial progress has been made in understanding the genetic and molecular pathogenesis of this cancer. It is instructive that the genes involved in the inherited colon cancer syndromes are the same genes involved in the etiology of most colorectal cancers. Familial adenomatous polyposis ...

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