Following the discovery of KRAS mutations in association with anti-EGFR moAbs resistance, the KRAS mutational characterization of mCRC tumours is, currently, preformed in routine basis before any treatment decision.
A systematic mutational characterization of the newly detected iron transporters and siderophore biosynthesis gene clusters may help to dissect the contribution of each system to the virulence of C. pseudotuberculosis FRC41.
Next generation sequencing (NGS) techniques are widely used to explore diverse areas in the study of cancer, including identification of driver mutations, measurement of tumor heterogeneity, investigation of genetic susceptibility, and characterization of mutational motifs to better understand underlying mutational processes.
In their paper, " A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect," S. K. Lee et al. identified a mutation in exon 2 of DSPP in association with type III DGI in a Korean family.
Next-generation sequencing (NGS) has provided a comprehensive characterization of mutations and mutational processes operative on coding regions of the MM genome11,12,13,14,15,16.
Nevertheless, the analyses have provided a level of characterization of mutational processes in cancer that was previously impossible and illustrate the power of whole cancer genome sequences, yielding essentially complete catalogs of somatic mutations, to further understanding of mechanisms of DNA damage and repair.
Histopathological examination of clinical samples, characterization of the mutational landscape of various types of cancer and functional studies in cancer cell lines have highlighted the linker histone H1 both as a potential biomarker and a driver in cancer.
These results indicate that further characterization of the mutational pathway of DCIS and IBC may help establish the invasive potential of DCIS.
Beyond the characterization of the mutational landscape in CLL, NGS has also been used to study, in an unbiased fashion, recurrent genetic alterations in CLL.
Most recent characterization of the mutational landscape of head and neck SCC showed that the genetic profile of HPV-positive SCC is distinct from that of HPV-negative SCC.
These results provide the basis for future mutational studies for more extensive function characterization of the Mpl sequence-structure relationships.
