OMIA 001512-9615 : Invasive transitional cell carcinoma in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 164757 (gene) , 211980 (trait) , 114500 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Somatic Mutation

Considered a defect: yes

Key variant known: 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)

Markers: By genotyping biopsy samples or tissue from cytological slides taken from 87 dogs with prostate carcinomas (PCa), Grassinger et al. (2019) concluded that "BRAF mutation analysis is a highly specific method and may aid in confirming the diagnosis of PCa in histologically and cytologically questionable cases. PCa positive for BRAF mutation exhibited more criteria of malignancy than PCa without this mutation. The clinical, therapeutic, and prognostic relevance of these findings needs to be evaluated by further studies."

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_051820.1 (8065738..8237942) BRAF Homologene, Ensembl, NCBI gene


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
93 Invasive transitional cell carcinoma of the bladder BRAF missense Naturally occurring variant CanFam3.1 16 g.8296284T>A c.1643T>A p.(V548E) XM_005629551.3; XP_005629608.1; published as somatic mutation p.(V594E) 2015 25767210


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.
2021 Gedon, J., Kehl, A., Aupperle-Lellbach, H., von Bomhard, W., Schmidt, J.M. :
BRAF mutation status and its prognostic significance in 79 canine urothelial carcinomas: A retrospective study (2006-2019). Vet Comp Oncol :, 2021. Pubmed reference: 34878687. DOI: 10.1111/vco.12790.
Rossman, P., Zabka, T.S., Ruple, A., Tuerck, D., Ramos-Vara, J.A., Liu, L., Mohallem, R., Merchant, M., Franco, J., Fulkerson, C.M., Bhide, K.P., Breen, M., Aryal, U.K., Murray, E.R., Dybdal, N., Utturkar, S.M., Fourez, L.M., Enstrom, A.W., Dhawan, D., Knapp, D.W. :
Phase I / II trial of vemurafenib in dogs with naturally-occurring, BRAF-mutated urothelial carcinoma. Mol Cancer Ther :, 2021. Pubmed reference: 34433660. DOI: 10.1158/1535-7163.MCT-20-0893.
2019 Grassinger, J.M., Aupperle-Lellbach, H., Erhard, H., Merz, S., Klopfleisch, R. :
[Detection of BRAF mutation in canine prostatic diseases]. Tierarztl Prax Ausg K Kleintiere Heimtiere 47:313-320, 2019. Pubmed reference: 31627222. DOI: 10.1055/a-0987-8212.
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
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  • Changed by Frank Nicholas on 23 Jan 2018
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  • Changed by Imke Tammen2 on 19 Apr 2021
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