Article
Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.
Annals of surgery - 1 Mar 1999
Gebert J F, Dupon C, Kadmon M, Hahn M, Herfarth C, von Knebel Doeberitz M, Schackert H K
Abstract excerpt
OBJECTIVE: Using an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. SUMMARY BACKGROUND DATA: Germline mutations in the APC gene predispose to FAP. Established and proposed...
Topics
- Adenomatous Polyposis Coli
- DNA Mutational Analysis
- Decision Trees
- Desmoid Tumors
- Humans
- Mutation
- Pigment Epithelium of Eye