A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family.

Journal article

Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition predisposing to multiple adenomatous polyps of the colon. FAP patients frequently carry heterozygous mutations of the APC tumour suppressor gene. Affected individuals from a cohort of FAP families (n=22), where no germ-line APC mutation was detected by direct sequencing, were analysed by Multiplex Ligation-dependent Probe Amplification (MLPA). MLPA identified a previously unreported APC mutation involving duplication of e...

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Authors: McCart, A; Latchford, A; Volikos, E; Rowan, A; Tomlinson, I

• Publication status: Published
• Journal: Familial cancer
• Volume: 5
• Issue: 2
• Pages: 205-208
• Publication date: 2006-01-01
• DOI: 10.1007/s10689-006-7471-y
• EISSN: 1573-7292
• ISSN: 1389-9600
• Language: English
• Keywords: Adenomatous Polyposis Coli; Genes, APC; Cytoskeletal Proteins; Adult; Base Sequence; Amino Acid Sequence; Molecular Sequence Data; Gene Duplication; Exons; Humans; Germ-Line Mutation