alterations, including exon 14 skipping variants, amplification, overexpression, and fusion, play pivotal roles in primary tumorigenesis and acquired resistance to targeted therapies, especially tyrosine kinase inhibitors. They represent important diagnostic, prognostic, and predictive biomarkers in many solid tumor types. However, the detection of alterations is challenging due to the complexity of alterations and the diversity of platform technologies. Therefore, techniques with high sensitivity, specificity, and reliable molecular detection accuracy are needed to overcome such hindrances and aid in biomarker-guided therapies. The current review emphasizes the role of alterations as oncogenic drivers in a variety of cancers and their involvement in the development of resistance to targeted therapies. Moreover, our review provides an overview of and recommendations on the selection of various cross-platform technologies for the detection of exon 14 skipping variants, amplification, overexpression, and fusion. Furthermore, challenges and hurdles underlying these common detection platforms are discussed.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798113 | PMC |
http://dx.doi.org/10.1177/17588359231221910 | DOI Listing |
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