Possibly relevant human trait(s) and/or gene(s) (MIM number): 164757

Mendelian trait/disorder: no

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: