Somatic Mutation Profiling in Head and Neck Paragangliomas.

ABSTRACT:

Context

Head and neck paragangliomas (HNPGLs) are rare neoplasms with a high degree of heritability. Paragangliomas present as polygenic diseases caused by combined alterations in multiple genes; however, many driver changes remain unknown.

Objective

The objective of the study was to analyze somatic mutation profiles in HNPGLs.

Methods

Whole-exome sequencing of 42 tumors and matched normal tissues obtained from Russian patients with HNPGLs was carried out. Somatic mutation profiling included variant calling and utilizing MutSig and SigProfiler packages.

Results

57% of patients harbored germline and somatic variants in paraganglioma (PGL) susceptibility genes or potentially related genes. Somatic variants in novel genes were found in 17% of patients without muta

SUBMITTER: Savvateeva M 

PROVIDER: S-EPMC9202733 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature