Despite dramatic advances and widespread clinical adoption of genetic testing for the identification of interpatient genetic variation, treatment with targeted drugs and temporary effectiveness, these agents only prolong survival for a few months . Recent data suggest that shifting from single biopsy-based testing to comprehensive intratumor diversity using next-generation sequencing (NGS) technologies could reduce tumor resistance to modern therapy. Could intratumor heterogeneity be used as a biomarker to predict primary tumor responsiveness and improve initial systemic treatment?
Genetic testing to identify a single mutated or amplified gene has been established widely in the clinic as a basis for personalized prevention or treatment strategies. Sequencing BRCA1/BRCA2 genes, mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) and CDH1 guide prophylactic surgery of hereditary breast-ovarian cancer, colorectal (Lynch) and diffuse gastric cancer syndromes, respectively.
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