Somatic alterations in the human cancer genome.

摘要: Most human malignancies are caused by somatic alterations within the cancer genome, leading to oncogene activation or tumor suppressor gene inactivation. The sequence of genome has enabled systematic approaches identify alterations, including point mutations, copy number increases and decreases, loss allelic heterozygosity, chromosome translocations. Systematic analysis recently led discovery mutations in BRAF, PIK3CA, EGFR genes, among others. With further development targeted therapies improvement technology, genome-wide surveys will likely become tools for diagnosis as well discovery.