In the case of hot-spot point mutations, as exemplified here with KRAS in CRC, targeted mutation detection with Q-PCR methods appears as the ideal approach.
The emergence of drug resistance can defeat the successful treatment of pathogens that display high mutation rates, as exemplified by RNA viruses.
According to our previous data, the synergistic interactions are readily detected with the pol2-Y831A allele, which is a weak mutator, as exemplified by an increase of mutation rates in the pol2-Y831A pms1 double mutants [ 7].
SNPs may modulate the penetrance or phenotype of a particular mutation through epistasis as exemplified by the exclusive action of the FGFR2 and MAP3K1 SNPs in BRCA2 mutation carriers (Antoniou et al. 2008).
However, population differences in other ALS pathogenic mutations have been previously reported as exemplified by the lack of TARDBP mutations in some populations and [49], [50] the very low frequency of SOD1 mutations reported in some countries such as the Netherlands [51].
The present data also provides an indication of a putative defect in GAG sulfation, which may lead to dramatic biological effects, as exemplified by mutations in PAPSS2, SLC26A2, gPAPP or SUMF1, all causing skeletal dysplasias [41] [44].
It is clear that the research field should keep an open mind when performing mutation analyses and interpreting its results as exemplified by the variants in the promoter and UTR regions that were previously overlooked.
Gene-specific mutations can be identified by carrying out loci-specific PCR or, more recently, by whole-exome sequencing, as exemplified by the Zebrafish Mutation Project (Kettleborough et al., 2013) (Box 1).
The assay also allows detection of mutations that generate partially functional proteins as exemplified by ppcesa5R453K.
Some genetic alterations are exclusive of given subtypes of gastric carcinomas, as exemplified by CDH1 mutations in diffuse gastric carcinomas (Becker et al, 1994; Grady et al, 2000).
