title: [Clinical application of next-generation sequencing technologies to achieve cancer precision medicine].
abstract: Clinical applications of genomic biomarkers have been rapidly expanding, as has the development of molecular targeted therapies for various cancers. Ras activation has been regarded as a negative predictive marker for anti-epidermal growth factor receptor(EGFR)antibody therapy for colorectal cancer. Detection of mutations in KRAS codons 12 and 13 is widely used in clinical settings. Recent studies revealed that "minor" activating mutations such as those in KRAS codons 61 and 146, as well as NRAS mutations, contribute to resistance. Multiplex mutation testing that includes analysis of these mutations will be clinically available in the near future. We have conducted translational research in which novel biomarker candidates were evaluated using whole-exome sequencing-based mutation profiles of anti-EGFR antibody-treated samples from multiple centers in Japan. Development of the necessary infrastructure to ensure that genetic testing data are properly handled and utilized in clinical settings is also an important issue for the realization of cancer precision medicine. We have conducted pilot studies at the National Cancer Center in Japan.
authors.affiliation: Division of Translational Research and Clinical Trial Center, National Cancer Center.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Tsuchihara
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics; D066246:ErbB Receptors / Q000235:genetics; D015894:Genome, Human; D057166:High-Throughput Screening Assays / Q000379:methods*; D006801:Humans; D058990:Molecular Targeted Therapy; D009369:Neoplasms / Q000188:drug therapy* / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D066246:ErbB Receptors