VHL and PBRM1, both located at chromosome 3p, are 2 major genes mutated at high frequency but apart from these aberrations, the mutational landscape in ccRCC is largely undefined.
Genes are ranked by using a score that integrates a mutation factor (MF), i.e., the difference between the impact of non-synonymous and synonymous mutations, and an Interaction Factor (IF), which takes account of the mutational landscape in the functional vicinity (for example, propinquity on a pathway) of a particular gene.
Philpott, C., Tovell, H., Frayling, I. M., Cooper, D. N. & Upadhyaya, M. The NF1 somatic mutational landscape in sporadic human cancers.
Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, et al. Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.
In this study, we identified the first CALR gene mutational landscape in Moroccan patients with MPN nonmutated for the JAK2 gene.
Dramatic improvements in instrument design and efficiency, combined with significant cost reductions has permitted a systematic analysis of the mutational landscape in a variety of cancer types.
Understanding how different genomic mutational landscapes in patients with cancer lead to different responses to anticancer drugs is an important challenge for realizing precision medicine for cancer.
Such accretion of knowledge reflects the current massive worldwide efforts to characterize cancer mutational landscapes in detail.
It is tempting to speculate that the cytidine-deaminase-associated mutational landscapes in breast cancer might be enriched at ER/A3B binding regions.
Genomic studies in breast, liver, pancreas, and kidney tumors have revealed regionally diverse mutational landscapes in primary tumors as well as metastatic sites and sites of local recurrence after treatment [ 5– 8].
The combined mutational landscape observed in mammalian genomes is complicated by the contribution from multiple cellular processes in addition to enzymatic deamination, such as metabolic oxidation, methyl-CpG deamination and aging, thus elucidating the precise contribution of the APOBECs is far from straightforward (Alexandrov et al., 2013; Lawrence et al., 2013).
