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Case Reports
. 2010 Apr 30;6(2):283-7.
doi: 10.5114/aoms.2010.13911.

Colorectal cancer in the course of familial adenomatous polyposis syndrome ("de novo" pathogenic mutation of APC gene): case report, review of the literature and genetic commentary

Rafał Stec  1 , Andrzej Pławski, Agnieszka Synowiec, Michał Mączewski, Cezary Szczylik
Affiliations
Case Reports

Colorectal cancer in the course of familial adenomatous polyposis syndrome ("de novo" pathogenic mutation of APC gene): case report, review of the literature and genetic commentary

Rafał Stec et al. Arch Med Sci. .

Abstract

Colorectal cancer (CRC) is one of the most common malignant tumours in Poland. Annually approximately 11 000 new cases of CRC are diagnosed, while the number of deaths caused by CRC approaches 8 000. Five-year survival does not exceed 20%. Familial adenomatous polyposis (FAP) is responsible for about 1% of new cases of CRC. The risk of CRC in FAP syndrome is 100%, and the average age of CRC development is 39 years. Early colectomy is the most effective method of CRC prevention. We report an atypical case of CRC in a patient with FAP caused by 2797-2800delAACA mutation of the APC gene.

Keywords: APC gene; FAP syndrome; adjuvant chemotherapy; colectomy; colorectal cancer; follow-up.

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Figures

Figure 1
Figure 1
PCR HD analysis of fragment C of exon 15 of the APC gene Arrow indicates additional conformers in patient no. 9355 occurring in association with 2797-2800delAACA
Figure 2
Figure 2
Sequencing of fragment G of exon 15 of the APC gene A – patient 9355. B – control. Arrow indicates the site of 2797-2800delAACA
See this image and copyright information in PMC

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