Molecular Diagnostics and Tumor Mutational Analysis
作者： Melissa A. Wilson , Katherine L. Nathanson
DOI: 10.1007/978-1-4939-2143-0_3
关键词:
摘要: Genetic and genomic analysis of melanoma tumor samples has identified a number somatic mutations integral to pathogenesis, with the most prevalent mutation being BRAF V600 mutation. Targeted inhibitors directed against this have produced improved overall survival compared chemotherapy. Multiple additional been identified, some also prompted development therapy targeted them. In chapter, we review common techniques used identify gene aberrations, briefly describe important in pathogenesis. We massively parallel sequencing discuss advances that made identification novel driver tumors. Finally, application these respect clinical testing is addressed, specifically as they pertain advancement personalized medicine.
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