S549R is a rare gating mutation considered to be less sensitive to potentiators than all other gating mutations.
In addition, altogether 7,342 N2 sequences of human (n = 5,866) or avian (n = 1,476) sources were analyzed, of which six human sources and one avian source genes contained the R292K mutation, considered to be of relevance for OE resistance in human subjects.
For this study, a total of 102 SNPs were detected by the microarray, including the 22 missense mutations considered to be pathogenic (Table 3).
Of the mutations considered to be adaptive by the criteria above, hitchhiking could not be ruled out for 2973 and 581.
In general, the bulky DNA adducts are more often associated with high potency to form gene mutations, considered to be of particular important for the initiation phase of cancer development.
Interpreting the causal relationship between the mutations considered to be significant in GWASs and the corresponding disease phenotypes is clearly complicated, and serious concerns about the efficacy of GWASs have been much discussed [ 71, 72].
In a recent study sequencing the exomes of 23 low-grade gliomas and their recurrences, in 43 % of cases, at least half of the mutations in the initial tumor were undetected at recurrence, including mutations considered to be driver mutations such as TP53 and ATRX.
Patients with melanomas containing activating mutations in KIT have been reported to respond to imatinib therapy (Lutzky et al, 2008; Quintas-Cardama et al, 2008; Satzger et al, 2010); however, it remains uncertain whether mutations considered to be predictive of imatinib resistance can respond to second-generation KIT kinase inhibitors.
These analyses used the Brownian mutation model [ 93] and mutation was considered to be constant for all loci.
However, because EGFR mutation is considered to be a driver mutation for carcinogenesis, the presence of another driving factor to induce tumor cells with wild-type EGFR would be necessary, suggesting that this event would be very rare.
Although the EGFR exon 20 S768I mutation is considered to be a very rare mutation, we detected a total of 24 (0.5%) NSCLC harbouring this mutation.
