Preliminary whole-exome sequencing reveals mutations that imply common tumorigenicity pathways in multiple endocrine neoplasia type 1 patients.

ABSTRACT:

Background

Whole-exome sequencing studies have not established definitive somatic mutation patterns among patients with sporadic hyperparathyroidism (HPT). No sequencing has evaluated multiple endocrine neoplasia type 1 (MEN1)-related HPT. We sought to perform whole-exome sequencing in HPT patients to identify somatic mutations and associated biological pathways and tumorigenic networks.

Methods

Whole-exome sequencing was performed on blood and tissue from HPT patients (MEN1 and sporadic) and somatic single nucleotide variants (SNVs) were identified. Stop-gain and stop-loss SNVs were analyzed with Ingenuity Pathways Analysis (IPA). Loss of heterozygosity (LOH) was also assessed.

Results

Sequencing was performed on 4 MEN1 and 10 sporadic cases. Eighteen stop-gain/stop-

SUBMITTER: Romero Arenas MA 

PROVIDER: S-EPMC4822541 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature