A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
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چکیده
منابع مشابه
A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis
Germline mutations of the APC gene are associated with an autosomal dominant precancerous condition, termed familial adenomatous polyposis (FAP). FAP is clinically manifested by the presence of multiple colorectal adenomas or polyps. Gradually, these colorectal adenomas or polyps inevitably result in colorectal cancer by the third-to fourth decade of life. Surgical interventions or total procto...
متن کاملA novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
Familial adenomatous polyposis (FAP) is an autosomal dominant disease manifesting as colorectal cancer in middle-aged patients. Mutations of the adenomatous polyposis coli (APC) gene contribute to both FAP and sporadic or familial colorectal carcinogenesis. Here we describe the identification of the causative APC gene defects associated with FAP in a Chinese pedigree. All patients with FAP were...
متن کاملNovel 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 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 کاملFamilial adenomatous polyposis coli.
The other mode of treating these patients are subtotal colectomy with ileorectal anastomosis alongwith regular follow up with proctoscopy for development of cancer in retained rectal mucosa(3,7). Recently, Stevan et al. (8) utilized laproscope for total proctocolectomy as well as ileoanal anostomosis while others performed ileopouch anal anastomosis alongwith total proctocolectomy(9,10). Thus t...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2016
ISSN: 1949-2553
DOI: 10.18632/oncotarget.10408