OMIA:001516-9615 : Gastrointestinal stromal tumour in Canis lupus familiaris (dog) |
Categories: Neoplasm
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606764 (trait) , 164920 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Somatic mutation
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific name: GIST
Species-specific description: IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Canis lupus familiaris | 13 | NC_051817.1 (47717855..47799689) | KIT | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 464 | Gastrointestinal stromal tumor | KIT | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 13 | g.47178531_47178536del | c.1664_1669del | NM_001003181.1; deletion of AGTGGA; SOMATIC MUTATION | 2010 | 20950418 | |||||
| 465 | Gastrointestinal stromal tumor | KIT | deletion, small (<=20) | Naturally occurring variant | CanFam3.1 | 13 | g.47178534_47178539del | c.1667_1672del | NM_001003181.1; deletion of GGAAGG; SOMATIC MUTATION | 2010 | 20950418 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001516-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2023 | De Magistris, A.V., Rossi, F., Valenti, P., Anson, A., Penninck, D.G., Agut, A., Specchi, S. : |
| CT features of gastrointestinal spindle cell, epithelial, and round cell tumors in 41 dogs. Vet Radiol Ultrasound 64:271-282, 2023. Pubmed reference: 36382620. DOI: 10.1111/vru.13188. | |
| Treggiari, E., Giantin, M., Ferro, S., Romanelli, G. : | |
| Canine gastrointestinal stromal tumours treated with surgery and imatinib mesylate: three cases (2018-2020). J Small Anim Pract 64:161-167, 2023. Pubmed reference: 36335646. DOI: 10.1111/jsap.13572. | |
| 2022 | Blaxill, J.E., Bender, H., Hoon, Q.J., Sow, J.W., Cheng, K.Y., Bennett, P.F. : |
| Gastrointestinal stromal tumor (GIST) presenting as a multilocular cystic intra-abdominal mass in a dog. BMC Vet Res 18:415, 2022. Pubmed reference: 36435800. DOI: 10.1186/s12917-022-03504-0. | |
| 2016 | Takanosu, M., Amano, S., Kagawa, Y. : |
| Analysis of c-KIT exon 11 mutations in canine gastrointestinal stromal tumours. Vet J 207:118-23, 2016. Pubmed reference: 26631948. DOI: 10.1016/j.tvjl.2015.10.051. | |
| 2010 | Gregory-Bryson, E., Bartlett, E., Kiupel, M., Hayes, S., Yuzbasiyan-Gurkan, V. : |
| Canine and human gastrointestinal stromal tumors display similar mutations in c-KIT exon 11. BMC Cancer 10:559, 2010. Pubmed reference: 20950418. DOI: 10.1186/1471-2407-10-559. |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Imke Tammen2 on 22 Jan 2022
- Changed by Imke Tammen2 on 03 Feb 2022
- Changed by Imke Tammen2 on 04 Jun 2023