Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas.

ABSTRACT:

Context

Typical nonfamilial (sporadic) parathyroid adenomas are common endocrine tumors for which no predisposing germline DNA variants and only a few clonally altered genes that drive parathyroid tumorigenesis have been identified. CDKN1B, encoding cyclin-dependent kinase inhibitor p27(kip1), has recently been implicated in a multiple endocrine tumor phenotype in rats and, rarely, in a human familial MEN1 (multiple endocrine neoplasia type 1)-like disorder.

Objective

We sought to determine whether mutation of CDKN1B might contribute to the development of common sporadic parathyroid adenomas.

Patients and design

We sequenced the CDKN1B gene in 86 parathyroid adenomas from patients with typical, sporadic presentations of primary hyperparathyroidism. Identified alterati

SUBMITTER: Costa-Guda J 

PROVIDER: S-EPMC3070245 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature