Consistent with our own data, codon 146 was the most frequently mutated of the mutations described.
Gene fusion is probably the most powerful way of mutating a gene as it can have multiple effects on the fused proteins.
Five somatic mutations (A495P, Q607H, D1047N, G2097V and S2341I) frequently appear in the genomes of CRC specimens, thus designating NAV3 as one of the most frequently mutated genes of this disease.
Nonetheless, ingenuity pathway analysis revealed a complex mechanistic interplay between several of our most frequently mutated epigenetic regulators and the prevalence of mutations in each epigenetic regulator is also graphically represented (Fig. 5).
SF3B1 was the most commonly mutated of these genes, and it was significantly enriched in the group of MDS with increased ring sideroblasts, refractory anemia with ring sideroblasts, and refractory cytopenia with multilineage dysplasia and ring sideroblasts (P<0.001).
For MUT data, we used the 11.4 % of OV, 12.2 % of LUAD, 9.9 % of BRCA and 30.4 % of GBM, of the most frequently mutated genes.
P53 protein is the product of one of the most frequently mutated tumour suppressor gene in cancer and also an important determinant of tumour cell sensitivity to DNA alterations including those induced by genotoxic drugs (Lowe and Lin, 2000; Lowe et al, 1993).
We took particular interest in several novel standouts among our list of most commonly mutated epigenetic genes.
Cutaneous SCC is the most highly mutated of all cancers, and consequently displays a complex genetic background (Durinck et al, 2011).
