Pyrosequencing Technology as a Method for the Diagnosis of Multiple Endocrine Neoplasia Type 2

Multiple endocrine neoplasia type 2 (MEN2) is a cancer syndrome with well-characterized causative mutations. Missense mutations in approximately 15 codons of the RET gene have been linked to disease phenotypes in the vast majority of cases. These missense mutations range from very simple single nucleotide base changes to more numerous changes at a given codon; they therefore are often tested for by more than one DNA-based diagnostic method. We developed and evaluated a Pyrosequencing technology-based approach for MEN2 mutation testing that allows both simple and complex mutations to be analyzed on one platform.