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.
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| 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