title: Detecting mutations in the APC gene in familial adenomatous polyposis (FAP).
abstract: Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is characterized by the progressive development of hundreds to thousands of adenomatous colon polyps. The gene associated with FAP (APC) contains 15 exons in the coding region. A scanning approach for large genes is reasonable, but some standard techniques have limited analytical sensitivity. The method described here, using DHPLC as mutation scanning approach for medium-throughput DNA sequence analysis, is largely considered to be the gold standard for point mutation analysis, and can be optimized for high-throughput testing. Detection of deletion and duplication mutations refractory to sequencing have been described using real-time quantitative PCR for dosage analysis. Technical strategies for mutation detection in the APC gene are presented in this chapter.
authors.affiliation: Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
authors.forename: Benjamin B
authors.initials: BB
authors.lastname: Roa
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017491:Genes, APC; D005821:Genetic Techniques; D006801:Humans; D009154:Mutation