In other species: domestic cat

Categories: Neoplasm

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 190020 (gene)

Mendelian trait/disorder: unknown

Mode of inheritance: Somatic mutation

Disease-related: yes

Species-specific name: Canine acanthomatous ameloblastomas (CAA)

Molecular basis: Saffari et al 2019: "By whole-exome sequencing, we have now discovered recurrent HRAS and BRAF activating mutations, respectively, in 63% and 8% of CAA. ... Strikingly, 11 of the 20 (55%) CAA cases carried activating HRAS mutations (10 HRAS-Q61R and 1 HRAS-G13R), and 2 of the 20 (10%) carried activating BRAF mutations (BRAF-V595E, orthologous to the human BRAF-V600E driver mutation) ... . Notably, cell lines derived from CAA with HRAS mutation exhibit marked sensitivity to MAP kinase (MAPK) pathway inhibitors, which constrain cell proliferation and drive ameloblast differentiation." Peralta et al. (2019) "aimed at characterizing the mutational status of SMO, BRAF, HRAS, KRAS, NRAS and FGFR2 in CAA, we used RNA sequencing, Sanger sequencing and restriction fragment length polymorphism assays to demonstrate that 94% of CAA (n = 16) harbour a somatic HRAS p.Q61R mutation." IT IS IMPORTANT TO NOTE THAT THESE ARE UNDERSTOOD TO BE A SOMATIC MUTATIONS, WHICH MEANS THAT THE VARIANTS ARE NOT INHERITED AND WILL NOT BE PASSED ON TO OFFSPRING

Associated gene: