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

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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