Although molecular techniques can identify genetic mutations that correlate with phenotypic antimicrobial drug resistance, new mutations may convey the emergence of phenotypes that are not apparent today.
This inconsistency of response is likely because of the fact that few MM tumours possess the activating EGFR mutations that correlate with tyrosine kinase inhibitor efficacy (Cortese et al, 2006).
In all three datasets SNVs appeared distributed throughout the genome, with all chromosomes displaying similar overall mutation that is strongly correlated with chromosome length, ruling out major biases in the targeting of mutations (Spearman's correlation coefficient for AID*: ρ > 0.65; for sA3G*: ρ > 0.55; for EMS: ρ > 0.68; Figure 1D).
Supplementary Table S2 gives an overview of the probes used and indicates the peak color that correlates with each mutation.
The goal of our study was to determine the nature and the location of mutations in κ and λ VL sequences from AL patients and to identify patterns in the location of non-conservative mutations that correlate with clinical parameters, such as serum free light chain levels, that may help predict rate of amyloidogenesis.
When coupled with genetic analysis using aCGH and whole-genome sequencing, it will be possible to identify de novo mutations that correlate with important features of cancer progression, likely revealing important insights into the crucial drivers of cancer heterogeneity.
In cases where the target of a drug is unknown or unclear, knowing the associations of nontarget mutations that correlate with treatment outcomes can inform the search for the actual target and/or suggest novel indications for established therapies.
The classic STR-R mutations that have been correlated with streptomycin-resistance in the 530-loop or 915-region of rrs, the 16S ribosomal RNA, or in rpsL, the ribosomal protein S12, were not observed in either strain.
None of the four kappa-1 light chains discussed here exhibit any of the three point mutations that are highly correlated with amyloidosis among kappa-1 light chains [14], i.e., Ile is found at position 29, Asp does not appear at position 31, and the salt-bridge involving Arg61 and Asp82 is intact in all of the proteins.
We uncover the existence of an underlying gene network that at least partially controls cancer 'survivalness', with mutations that are significantly correlated with patient survival, yet independent of tumour origin and type.
