Mutational Screening of the APC Gene in Chilean Families with Familial Adenomatous Polyposis: Nine Novel Truncating Mutations

We achieved 87 percent mutation detection rate in adenomatous polyposis coli gene; more than 50 percent of them were novel. The high percentage of novel mutations found may be because of the genetic composition of the Chilean population, which is an admixture of Amerindian and Spaniards, and the scarce information in the literature about similar populations.