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Using the Minor Variant Finder software to identify and quantify the allelic burden level of somatic mutations in oncohematologic diseases

Описание

Тип публикации: статья из журнала

Год издания: 2020

Идентификатор DOI: 10.17650/1818-8346-2020-15-2-85-91

Ключевые слова: asxl1, bcr-abl, chronic myeloid leukemia, jak2, minor variant finder, myeloproliferative neoplasm, ph-myeloproliferative neoplasm

Аннотация: Background. There are problems related to both quantitative assessment of an allele burden level of a mutant gene and interpretation of results in DNA samples with the burden level of the mutant allele less than 15-20 %, when using Sanger sequencing for analyzing somatic mutations. Applied Biosystems (USA) has developed new softwarПоказать полностьюe Minor Variant Finder, which allows determining mutations with the allele burden level from 5 %. The objective: To determine the allele burden level and identification of minor variants of somatic mutations in the ASXL1, JAK2 genes and BCR-ABL oncogene using Minor Variant Finder software in patients with myeloproliferative neoplasms. Materials and methods. The level of mutant allele burden for 15 patients with myeloproliferative neoplasms was determined by the identified mutations using the Minor Variant Finder software, after analysis of point somatic mutations in the ASXL1, JAK2 genes and BCR-ABL oncogene by Sanger sequencing. Results. The allele burden level in all 5 ASXL1âpositive samples and BCR-ABL-positive sample was determined as higher than 20 % using the Minor Variant Finder software. The allele burden level in 2 cases was higher than 20 % and in 7 cases lower than 20 %, when we analyzed 9 JAK2âpositive samples. Conclusion. Minor Variant Finder software can be used to estimate the allele burden level and to identify minor variants of somatic mutations in the ASXL, JAK2 and BCR-ABL genes. © 2020 ABV-Press Publishing House. All rights reserved.

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Издание

Журнал: Oncogematologiya

Выпуск журнала: Vol. 15, Is. 2

Номера страниц: 85-91

ISSN журнала: 18188346

Персоны

  • Subbotina T.N. (Siberian Federal University, 79 Svobodnyy Prospekt, Krasnoyarsk, 660041, Russian Federation, Federal Siberian Research and Clinical Center of Federal Medical and Biological Agency of Russia;, 26 Kolomenskaya St, Krasnoyarsk, 660037, Russian Federation)
  • Maslyukova I.E. (Siberian Federal University, 79 Svobodnyy Prospekt, Krasnoyarsk, 660041, Russian Federation)
  • Faleeva A.A. (Siberian Federal University, 79 Svobodnyy Prospekt, Krasnoyarsk, 660041, Russian Federation, Federal Siberian Research and Clinical Center of Federal Medical and Biological Agency of Russia;, 26 Kolomenskaya St, Krasnoyarsk, 660037, Russian Federation)
  • Nikolaeva P.A. (Siberian Federal University, 79 Svobodnyy Prospekt, Krasnoyarsk, 660041, Russian Federation, Federal Siberian Research and Clinical Center of Federal Medical and Biological Agency of Russia;, 26 Kolomenskaya St, Krasnoyarsk, 660037, Russian Federation)
  • Khazieva A.S. (Regional Clinical Hospital, 3a Partizana Zheleznyaka St, Krasnoyarsk, 660022, Russian Federation)
  • Dunaeva E.A. (Central Research Institute of Epidemiology, Federal Service on Customers' Rights Protection and Human Well-being Surveillance;, 3a Novogireevskaya St, Moscow, 111123, Russian Federation)
  • Mironov K.O. (Central Research Institute of Epidemiology, Federal Service on Customers' Rights Protection and Human Well-being Surveillance;, 3a Novogireevskaya St, Moscow, 111123, Russian Federation)
  • Polushkina L.B. (Russ. Res. Inst. of Hematology and Transfusiology of Federal Medical and Biological Agency of Russia, 16 2âSovetskaya St, Saint Petersburg, 191024, Russian Federation)
  • Martynkevich I.S. (Russ. Res. Inst. of Hematology and Transfusiology of Federal Medical and Biological Agency of Russia, 16 2âSovetskaya St, Saint Petersburg, 191024, Russian Federation)
  • Vereshchagina S.V. (Federal Siberian Research and Clinical Center of Federal Medical and Biological Agency of Russia;, 26 Kolomenskaya St, Krasnoyarsk, 660037, Russian Federation)
  • Barankin B.V. (Federal Siberian Research and Clinical Center of Federal Medical and Biological Agency of Russia;, 26 Kolomenskaya St, Krasnoyarsk, 660037, Russian Federation)

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