Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

ABSTRACT:

Context

Genetic abnormalities, such as those of multiple endocrine neoplasia type 1 (MEN1) and Cyclin D1 (CCND1) genes, occur in <50% of nonhereditary (sporadic) parathyroid adenomas.

Objective

To identify genetic abnormalities in nonhereditary parathyroid adenomas by whole-exome sequence analysis.

Design

Whole-exome sequence analysis was performed on parathyroid adenomas and leukocyte DNA samples from 16 postmenopausal women without a family history of parathyroid tumors or MEN1 and in whom primary hyperparathyroidism due to single-gland disease was cured by surgery. Somatic variants confirmed in this discovery set were assessed in 24 other parathyroid adenomas.

Results

Over 90% of targeted exons were captured and represented by more than 10 base reads. Analys

SUBMITTER: Newey PJ 

PROVIDER: S-EPMC4446457 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature