Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis

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Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome that accounts for approximately 0.5-1% of all colorectal cancer cases. It is caused by germline mutations in the gene encoding the adenomatous polyposis coli (APC) tumor suppressor. Somatic APC inactivation due to mutation or loss of heterozygosity (LOH) promotes the development of adenomatous polyps by...

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Familial 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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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 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...

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Familial Adenomatous Polyposis.

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitabl...

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Familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most pa...

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ژورنال

عنوان ژورنال: Genes, Chromosomes and Cancer

سال: 2011

ISSN: 1045-2257

DOI: 10.1002/gcc.20953