OMIA 001516-9615 : Gastrointestinal stromal tumour in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606764 (trait) , 164920 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Somatic Mutation

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 Inferred EVA rsID 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

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.
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