Article
Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309.
Neoplasma - 1 Jan 2009
Wachsmannova-Matelova L, Stevurkova V, Adamcikova Z, Holec V, Zajac V
Abstract excerpt
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...
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