Genetic alterations of the APC gene in familial adenomatous polyposis patients of the hellenic group for the study of colorectal cancer.
Familial Adenomatous Polyposis (FAP)-a premalignant clinical entity inherited as an autosomal dominant trait-is characterized by the development of hundreds to thousands of adenomatous polyps of the colorectum during the second and third decade of life. Approximately 80% of the FAP patients harbour truncating germ-line mutations in the APC tumor suppressor gene (Adenomatous Polyposis Coli). We tested 48 members from 9 families. Two novel truncating mutations were identified-2601delGA, R923X--and five already known mutations R564X, R876X, Q1045X, 3927-3931delAAAGA and D1822V were found. Our method for testing was PCR amplification from genomic DNA extracted from whole blood, followed by automated DNA sequencing.
Mihalatos
M
M
Molecular Biology Research Center HYGEIA Antonis Papayiannis, Kifissias Ave. & Erythrou Stavrou 4 Str, GR151-23 Maroussi, Athens, Greece.
Apessos
A
A
Papadopoulou
E
E
Agnantis
N J
NJ
Yannoukakos
D
D
Fountzilas
G
G
Nasioulas
G
G
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D018389:Codon, Nonsense; D016368:Frameshift Mutation; D020868:Gene Silencing; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D009154:Mutation
D018389:Codon, Nonsense