Familial adenomatous polyposis coli in South Africa - Molecular basis and diagnosis

Objective. To determine the molecular basis and establish a routine molecul ar diagnostic service for familial adenomatous polyposis coli (FAP) familie s in South Africa. Design. The coding region of the adenomatous polyposis coli (APC) gene in a ffected FAP kindreds was screened using heteroduplex analysis, single-stran d conformation polymorphism analysis and the protein truncation test. Setting. Department of Human Genetics, University of Stellenbosch, and the Cancer Research Campaign Laboratories, Department of Pathology University o f Edinburgh and Molecular Medicine Centre, Western General Hospital, Edinbu rgh, Scotland (academic visit of 6 months). Subjects. FAP-affected individuals and at-risk family members in 28 apparen tly unrelated South African families. Results. A total of nine different APC mutations was identified, allowing D NA-based diagnosis in 20 families. Three of these mutations have not been d escribed previously in other populations. Conclusion. Pre-symptomatic diagnosis using direct mutation detection is co st-effective and surgical intervention has the potential to prevent cancer in at-risk individuals from FAP families.