OMIA 001512-9615 : Invasive transitional cell carcinoma in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
164757
Mendelian trait/disorder:
unknown
Considered a defect:
yes
Year key variant first reported:
2015
Species-specific name:
Invasive transitional cell carcinoma of the bladder; Canine InvTCC
Species-specific symbol:
InvTCC
Mapping:
Position 8296284 on chromosome CFA16 (Decker et al., 2015)
Molecular basis:
Decker et al. (2015) reported that "four histologically confirmed canine InvTCC tumors [from] . . . two Scottish terriers, one West Highland white terrier and one Shetland sheepdog . . . harbor a nonsynonymous, single-nucleotide variant at genomic position 8296284 on Canis familiaris chromosome 16 (CFA16), which results in a valine to glutamic acid substitution at codon 595 of canine BRAF . . . . This mutation, BRAF(V595E), is homologous by multiple sequence alignment to the oncogenic human BRAF(V600E) mutation." IT IS IMPORTANT TO NOTE (as the authors stressed) THAT THIS IS A SOMATIC MUTATION, AND IS NOT INHERITED.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | Canis lupus familiaris | 16 | NC_006598.3 (8222909..8318179) | BRAF | 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.
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Invasive transitional cell carcinoma of the bladder | BRAF | missense | CanFam3.1 | 16 | g.8296284 | p.V595E | 2015 | 25767210 |
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.
| 2015 | Decker, B., Parker, H.G., Dhawan, D., Kwon, E.M., Karlins, E., Davis, B.W., Ramos-Vara, J.A., Bonney, P.L., McNiel, E.A., Knapp, D.W., Ostrander, E.A. : | |
| Homologous Mutation to Human BRAF V600E Is Common in Naturally Occurring Canine Bladder Cancer--Evidence for a Relevant Model System and Urine-Based Diagnostic Test. Mol Cancer Res 13:993-1002, 2015. Pubmed reference: 25767210. DOI: 10.1158/1541-7786.MCR-14-0689. | ||
| 2004 | Glickman, LT., Raghavan, M., Knapp, DW., Bonney, PL., Dawson, MH. : | |
| Herbicide exposure and the risk of transitional cell carcinoma of the urinary bladder in Scottish Terriers. J Am Vet Med Assoc 224:1290-7, 2004. Pubmed reference: 15112777. | ||
| 2000 | Knapp, D., Glickman, N., DeNicola, D., Bonney, P., Lin, T., Glickman, L. : | |
| Naturally-occurring canine transitional cell carcinoma of the urinary bladder: A relevant model of human invasive bladder cancer Urology Oncology 5:47-59, 2000. | ||
| 1989 | Glickman, LT., Schofer, FS., McKee, LJ., Reif, JS., Goldschmidt, MH. : | |
| Epidemiologic study of insecticide exposures, obesity, and risk of bladder cancer in household dogs. J Toxicol Environ Health 28:407-14, 1989. Pubmed reference: 2593174. DOI: 10.1080/15287398909531360. | ||
| 1976 | Hayes, HM. : | |
| Canine bladder cancer: epidemiologic features. Am J Epidemiol 104:673-7, 1976. Pubmed reference: 998613. |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Frank Nicholas on 23 Jan 2018