Molecular Biology

, Volume 53, Issue 4, pp 547–559 | Cite as

Novel Genes Associated with the Development of Carotid Paragangliomas

  • A. V. SnezhkinaEmail author
  • E. N. Lukyanova
  • M. S. Fedorova
  • D. V. Kalinin
  • N. V. Melnikova
  • O. A. Stepanov
  • M. V. Kiseleva
  • A. D. Kaprin
  • E. A. Pudova
  • A. V. Kudryavtseva


Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors of the head and neck. “Germline” and somatic mutations in a number of genes were shown to be associated with the development of CPGLs; however, molecular mechanisms of the tumor pathogenesis have not been fully understood. In the work, we have used whole exome sequencing data of 52 CPGLs obtained earlier. Using MutSigCV, the search for genes with high mutation rate was performed. Thirty four genes (MADCAM1, SARM1, ZFPM1, CTDSP2, DSPP, POTED, ANP32B, FRG2B, BAGE3, CCDC89, ACOT2, KRTAP10-1, ATXN1, GXYLT1, MUC2, AQP7, TMPRSS13, KRTAP4-3, PRR21, PSPH, PLBD1, ZNF595, IGSF3, PRR16, FAM157A, KCNJ12, HYDIN, IGFBP2, KIAA1671, DISC1, MUC6, XKR3, HRNR, and MUC4) potentially associated with the CPGL initiation and progression were revealed. The involvement of these genes in the pathogenesis of CPGLs was first shown, and possible mechanisms of their participation in that were discussed.


carotid paragangliomas tumor-associated genes exome high-throughput sequencing 



The authors are grateful for the support provided by the Vishnevsky Institute of Surgery by participating in the collection of CPGLs and the Medical Research Radiological Center by providing some of the computing power.


The study was funded by a grant from the Russian Science Foundation (project no. 17-75-20105).


Conflict of interest. The authors declare that they have no conflict of interest.

Statement of the welfare of animals. This article does not contain any studies involving animals or human participants performed by any of the authors.


These authors contributed equally to this work.


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Copyright information

© Pleiades Publishing, Inc. 2019

Authors and Affiliations

  • A. V. Snezhkina
    • 1
    Email author
  • E. N. Lukyanova
    • 1
  • M. S. Fedorova
    • 1
  • D. V. Kalinin
    • 2
  • N. V. Melnikova
    • 1
  • O. A. Stepanov
    • 1
    • 3
  • M. V. Kiseleva
    • 3
  • A. D. Kaprin
    • 3
  • E. A. Pudova
    • 1
  • A. V. Kudryavtseva
    • 1
  1. 1.Engelhardt Institute of Molecular Biology, Russian Academy of SciencesMoscowRussia
  2. 2.Vishnevsky Institute of Surgery, Ministry of Health of the Russian FederationMoscowRussia
  3. 3.National Medical Research Radiological Center, Ministry of Health of the Russian FederationMoscowRussia

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