Familial polyposis coli syndromes

Michał Drews; Tomasz Banasiewicz; Piotr Krokowicz; Andrzej Pławski; Jacek Paszkowski

eISSN: 1897-4309
ISSN: 1428-2526

Contemporary Oncology/Współczesna Onkologia

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8/2006
vol. 10

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abstract:

Familial polyposis coli syndromes

Michał Drews

,

Tomasz Banasiewicz

,

Piotr Krokowicz

,

Andrzej Pławski

,

Jacek Paszkowski

Współcz Onkol (2006) vol. 10; 8 (395–400)

Online publish date: 2006/10/16

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Familial polyposis coli syndromes are caused by germline mutation in the APC gene. Multiple adenomatous polyps, early age of malignant transformation and high frequency of extracolonic manifestations are the main clinical symptoms of polyposis syndromes. Detection of polyposis syndromes is done by pedigree analysis, genetic examination and/or endoscopical examination of the large bowel. The APC gene is screened for mutations by the use of heteroduplex and SSCP methods. Endoscopy of the large bowel is necessary in case of undetected mutations and for decision about surgery of carriers of the mutation. Resection of the large bowel is the only indicated procedure. Restorative proctocolectomy is the most common, but colectomy and laparoscopic procedures are described more and more frequently.

keywords:

Familial polyposis coli syndromes

Michał Drews , Tomasz Banasiewicz , Piotr Krokowicz , Andrzej Pławski , Jacek Paszkowski

familial polyposis coli, syndromes, cancer

Michał Drews

,

Tomasz Banasiewicz

,

Piotr Krokowicz

,

Andrzej Pławski

,

Jacek Paszkowski