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Implementation of a single assay to effectively detect mutations and amplifications in clinically relevant genes not only improves the efficiency of the workflow within diagnostic laboratories but also increases the chance of detecting (rare) actionable variants for a given tumor type that are typically missed in routine pathology.
Notably, ALK mutations and amplifications as well as gene over-expression were found to significantly correlate with other unfavorable features of poor outcome in advanced/metastatic compared with localized tumors [3], [21], [26] [29].
Missense mutations and amplifications were considered driver alterations of activating driver TFs.
No mutations and amplifications of H-, K-, or N- ras genes have been detected in this cell line.
Deletions, mutations and amplifications of highly interconnected genes are likely to be deleterious because they can affect several aspects of the cell's life.
This increased frequency of alterations is true for losses, mutations and amplifications (high-level gains) but does not necessarily hold for low-level gains [ 24, 31].
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EGFR mutations and amplification represent the gene's main deregulation mechanisms in cancers of different histo-genetic origin.
Mutations and amplification of EGFR are common in non-small-cell lung carcinoma and provide the basis for treatment with EGFR-inhibitors.
PIK3CA mutations and amplification were found in FTC.
PIK3CA mutations and amplification were found in 8/113 (7.1%) and 88/131 (67%) gastric cancer patients, respectively.
PIK3CA mutations and amplification are two major causes of overactivation of this pathway in human cancers.
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