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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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Related Experiment Video

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Therapy Testing in a Spheroid-based 3D Cell Culture Model for Head and Neck Squamous Cell Carcinoma
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Somatic Mutation Profiling in Head and Neck Paragangliomas.

Maria Savvateeva1, Anna Kudryavtseva1, Elena Lukyanova1

  • 1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.

The Journal of Clinical Endocrinology and Metabolism
|April 23, 2022
PubMed
Summary

This study analyzed somatic mutations in head and neck paragangliomas (HNPGLs), identifying key mutated genes and mutational signatures. Findings reveal novel genetic alterations and inform molecular mechanisms driving HNPGL development.

Keywords:
BAF analysishead and neck paragangliomasmutational signaturesignificantly mutated genessomatic mutationswhole-exome sequencing

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Head and neck paragangliomas (HNPGLs) are rare, highly heritable tumors.
  • These neoplasms often present as polygenic diseases with multiple genetic alterations, but many drivers remain unidentified.

Purpose of the Study:

  • To investigate the somatic mutation profiles and mutational landscape of HNPGLs.
  • To identify novel driver mutations and understand molecular mechanisms in HNPGL pathogenesis.

Main Methods:

  • Whole-exome sequencing was performed on 42 HNPGL tumors and matched normal tissues from Russian patients.
  • Somatic mutation profiling utilized MutSig and SigProfiler packages for variant calling and signature analysis.

Main Results:

  • 57% of patients had germline/somatic variants in known paraganglioma (PGL) susceptibility genes.
  • Novel somatic variants were found in 17% of patients lacking known PGL gene mutations.
  • Six significantly mutated genes (SDHD, BCAS4, SLC25A14, RBM3, TP53, ASCC1) and four mutational signatures (SBS5, SBS29, SBS1, SBS7b) were identified.

Conclusions:

  • The study provides insights into the somatic genetic alterations and mutational landscape of HNPGLs.
  • Findings contribute to understanding the molecular mechanisms underlying HNPGL development.
  • Identified mutations and signatures may aid in future diagnostic and therapeutic strategies.