JMB-HEADER RAS-JOURNALS EIMB Pleiades Publishing

RUS

             

ENG

YearIMPACT-FACTOR
2017  0,977
2016  0,799
2015  0,662
2014  0,740
2013  0,739
2012  0,637
2011  0,658
2010  0,654
2009  0,570
2008  0,849
2007  0,805
2006  0,330
2005  0,435
2004  0,623
2003  0,567
2002  0,641
2001  0,490
2000  0,477
1999  0,762
1998  0,785
1997  0,507
1996  0,518
1995  0,502
Vol 53(2019) N 4 p. 547-559; DOI 10.1134/S0026893319040137 Full Text

A.V. Snezhkina1*, E.N. Lukyanova1, M.S. Fedorova1, D.V. Kalinin2, N.V. Melnikova1, O.A. Stepanov1,3, M.V. Kiseleva3, A.D. Kaprin3, E.A. Pudova1, A.V. Kudryavtseva1

Novel Genes Associated with the Development of Carotid Paragangliomas

1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia
2Vishnevsky Institute of Surgery, Ministry of Health of the Russian Federation, Moscow, 117997 Russia
3National Medical Research Radiological Center, Ministry of Health of the Russian Federation, Moscow, 125284 Russia

*leftger@rambler.ru
Received - 2018-10-11; Revised - 2019-02-19; Accepted - 2019-02-19

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



JMB-FOOTER RAS-JOURNALS