MAPK pathway activation related to cancer development has drawn a great deal of attention in the field of personalized medicine in recent years. Many different approaches and assays have been developed to query the activation of this pathway and to develop life-saving treatments. The goal of this review article is threefold. First, to provide a brief overview of the many mutation assays that have been used to detect MAPK pathway activation, and to compare pros and cons of these assay platforms. Second, to focus on one custom-designed multiplexing mutation assay that is currently used to support an ongoing clinical trial and to show the novel features of this assay and its relevance in addressing unmet clinical needs. Third, to provide future perspectives of these MAPK pathway gene mutation detection efforts and to suggest how what we have learned from past and current approaches should guide future developments.
Keywords: BRAF; FFPE; KBN-SNPE; KRAS; MAPK; MEK; NGS; NRAS; SNaPshot.