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Front Genet. 2020 Dec 18;11:614908. doi: 10.3389/fgene.2020.614908. eCollection 2020.

Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas.

Frontiers in genetics

Anastasiya V Snezhkina, Maria S Fedorova, Vladislav S Pavlov, Dmitry V Kalinin, Alexander L Golovyuk, Elena A Pudova, Zulfiya G Guvatova, Nataliya V Melnikova, Alexey A Dmitriev, George S Razmakhaev, Andrey A Poloznikov, Galina S Alekseeva, Andrey D Kaprin, George S Krasnov, Anna V Kudryavtseva

Affiliations

  1. Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia.
  2. Vishnevsky Institute of Surgery, Ministry of Health of the Russian Federation, Moscow, Russia.
  3. National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, Russia.

PMID: 33391357 PMCID: PMC7775293 DOI: 10.3389/fgene.2020.614908

Abstract

Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that have a high degree of heritability and are predominantly associated with mutations in ten genes, such as

Copyright © 2020 Snezhkina, Fedorova, Pavlov, Kalinin, Golovyuk, Pudova, Guvatova, Melnikova, Dmitriev, Razmakhaev, Poloznikov, Alekseeva, Kaprin, Krasnov and Kudryavtseva.

Keywords: SDHx; carotid and vagal paragangliomas; head and neck paragangliomas; mutation frequency; pathogenic mutations; susceptibility genes

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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