High Penetrance of Pheochromocytoma Associated with the Novel C634Y/Y791F Double Germline Mutation in the <i>RET</i> Protooncogene

Abstract

Our data suggest that the natural history of the novel C634Y/Y791F double mutation carries a codon 634-like pattern of medullary thyroid carcinoma development, is associated with increased susceptibility to unusually large bilateral pheochromocytomas, and is likely more biologically active than each individual mutation.