Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.

ABSTRACT:

Background

Pheochromocytomas (PCCs) show the highest degree of heritability in human neoplasms. However, despite the wide number of alterations until now reported in PCCs, it is likely that other susceptibility genes remain still unknown, especially for those PCCs not clearly syndromic.

Methods

Whole exome sequencing of tumor DNA was performed on a set of twelve PCCs clinically defined as sporadic.

Results

About 50% of PCCs examined had somatic mutations on the known susceptibility VHL, NF1, and RET genes. In addition to these driver events, mutations on SYNE1, ABCC10, and RAD54B genes were also detected. Moreover, extremely rare germline variants were present in half of the sporadic PCC samples analyzed, in particular variant

SUBMITTER: Urbini M 

PROVIDER: S-EPMC6120303 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature