Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00027162%3A_____%2F20%3AN0000163" target="_blank" >RIV/00027162:_____/20:N0000163 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14740/20:00118346 RIV/62157124:16170/20:43878417

Result on the web

<a href="https://onlinelibrary.wiley.com/doi/full/10.1111/vco.12572" target="_blank" >https://onlinelibrary.wiley.com/doi/full/10.1111/vco.12572</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/vco.12572" target="_blank" >10.1111/vco.12572</a>

Result language

angličtina

Original language name

Recurrent gene mutations detected in canine mast cell tumours by next generation sequencing

Original language description

Genetic causes of canine mast cell tumours (MCTs), except for mutations in the KIT gene detected in some MCTs, are generally unknown. We used whole exome sequencing to reveal mutation spectra in canine MCTs. We detected somatic mutations in 87 genes including 10 genes recognized as human cancer drivers. Besides KIT, 14 other genes were recurrently mutated. Subsequently, we performed next generation sequencing of a panel of 50 selected genes in additional MCT samples. In this group, the most frequently altered gene was GNB1 showing a recurrent dinucleotide substitution at position of Gly116 in 30% of the MCT samples (n = 6/20) and Ile80 substitution accompanied by a splice region mutation in one case. We extended the study by analysis of the above mentioned GNB1 regions in additional MCT samples by Sanger sequencing, and assessed the overall prevalence of GNB1 mutations to 17.3% (n = 14/81), which is similar to the prevalence of KIT alterations. Our results indicate that GNB1 mutations are probably involved in canine MCT pathogenesis in both cutaneous and subcutaneous MCT cases. As opposed to KIT alterations, the presence of GNB1 mutations did not negatively affect survival times, and our data even showed a trend towards positive prognosis. If our results are confirmed in a larger number of MCTs, an extension of molecular testing of canine MCTs by GNB1 analysis would help to refine the molecular stratification of MCTs, and become useful for targeted treatment strategies.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

40301 - Veterinary science

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Veterinary and Comparative Oncology

ISSN

1476-5810

e-ISSN

1476-5829

Volume of the periodical

18

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

10

Pages from-to

509-518

UT code for WoS article

000590128500007

EID of the result in the Scopus database

2-s2.0-85079125859