Home Neoplasma 2009 Neoplasma Vol.56, No.6, p.486-489, 2009

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Founded: 1954
ISSN 0028-2685
ISSN 1338-4317 (online)

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Neoplasma Vol.56, No.6, p.486-489, 2009

Title: Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309

Abstract: Germline mutation in APC gene induced development of familial adenomatous polyposis (FAP). The risk of developing specific manifestation of FAP is often correlated with the position of the inherited APC mutation. Patients with mutations localized in the largest exon 15 between codons 1286 and 1513 (mutation cluster region, MCR) have generally a worse prognosis with early onset of the disease. We found 6 FAP families with mutation at codon 1309 (3927_3931delAAAGA) in the cohort of 39 FAP Slovak families with rapid cancer progress. In addition, mutation in codon 1309 was detected in three family members, one of them with a very different phenotype. This oldest family member, aged 81, has persisted asymptomatic without clinical manifestations.

Keywords: Colorectal cancer; familial adenomatous polyposis (FAP); APC gene mutations; single strand conformation polymorphism (SSCP)
Year: 2009, Volume: 56, Issue: 6 Page From: 486, Page To: 489

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