Somatic Mutation and Germline Sequence Abnormalities in <i>CDKN1B</i> , Encoding p27Kip1, in Sporadic Parathyroid Adenomas

Abstract

In typical, sporadic parathyroid adenomas, CDKN1B mutation can be somatic and clonal, indicative of a directly conferred selective advantage in parathyroid tumorigenesis. Additionally, the identification of germline CDKN1B variants in patients with sporadic presentations provides evidence for CDKN1B as a susceptibility gene in the development of typical parathyroid adenomas.