作者: J Han JM Van Krieken , Etienne Rouleau , Marjolijn J. L. Ligtenberg , Nicola Normanno , Scott D. Patterson
DOI: 10.1007/S00428-015-1876-7
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摘要: Personalized medicine shows promise for maximizing efficacy and minimizing toxicity of anti-cancer treatment. KRAS exon 2 mutations are predictive resistance to epidermal growth factor receptor-directed monoclonal antibodies in patients with metastatic colorectal cancer. Recent studies have shown that broader RAS testing (KRAS NRAS) is needed select While Sanger sequencing still used, approaches based on various methodologies available. Few CE-approved kits, however, detect the full spectrum mutations. More recently, "next-generation" has been developed research use, including parallel semiconductor reversible termination. These techniques high technical sensitivities detecting mutations, although ideal threshold currently unknown. Finally, liquid biopsy potential become an additional tool assess tumor-derived DNA. For accurate timely testing, appropriate sampling prompt delivery material critical. Processes ensure efficient turnaround from sample request evaluation must be implemented so receive most Given variety methodologies, external quality assurance programs important a standard testing. Here, we review practical aspects pathologists working cancer tumor samples. The extension markers new paradigm biomarker