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However, the genetic aetiology of their development is still mostly unknown, with the exception of <jats:italic>KIT<\/jats:italic> and <jats:italic>tumor protein p53<\/jats:italic> (<jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic>) mutations reported in less than a half of cutaneous MCTs. In subcutaneous MCTs, no gene alterations were previously detected. We analysed <jats:italic>KIT<\/jats:italic> and <jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic> mutations in cutaneous and subcutaneous MCTs, and identified methylated CpG sites in <jats:italic>KIT<\/jats:italic> and <jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic> promoters and adjacent exon 1 regions. The mutation analysis focused on <jats:italic>KIT<\/jats:italic> exons 8, 9 and 11, and <jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic> exons 5\u20108, and revealed mutations in 26% and 7% cutaneous MCT cases, respectively. Moreover, we report a first case of <jats:italic>KIT<\/jats:italic> mutation ever detected in subcutaneous MCTs. <jats:italic>KIT<\/jats:italic> exon 11 mutations and high Kiupel and Patnaik grades were associated with reduced survival in this study. Both <jats:italic>KIT<\/jats:italic> and <jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic> gene were generally unmethylated in canine cutaneous MCTs. A sporadic methylation of the CpG positions in <jats:italic>KIT<\/jats:italic> promoter and adjacent exon 1 was detected in 70.4% of cutaneous and 82% of subcutaneous MCTs. A sporadic methylation of the CpG positions in the <jats:italic>TP<jats:sub>53<\/jats:sub><\/jats:italic> promoter and exon 1 was observed in 36.8% of the analysed cutaneous MCT samples. Only in two subcutaneous MCTs, we observed more than 30% of clones showing <jats:italic>KIT<\/jats:italic> methylation at the CpG positions 13 or 14. The CpG position 14 is involved in a predicted binding site for Sp1 transcription factor. However, the significance of <jats:italic>KIT<\/jats:italic> promoter methylation at this specific position needs further evaluation.<\/jats:p>","DOI":"10.1111\/vco.12543","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T22:44:52Z","timestamp":1569969892000},"page":"438-444","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Mutation and methylation status of <i>KIT<\/i> and <i>TP<sub>53<\/sub><\/i> in canine cutaneous and subcutaneous mast cell tumours"],"prefix":"10.1111","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-8221","authenticated-orcid":false,"given":"Miluse","family":"Vozdova","sequence":"first","affiliation":[{"name":"Department of Genetics and Reproduction Central European Institute of Technology\u2010Veterinary Research Institute  Brno Czech 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