2015 AGBT: An Augmented, Extended Cancer Gene Panel Integrating DNA and RNA Sequencing Comprehensively Assesses Neoplastic Genetic Lesions

The Complexity of Cancer Mutations

Through next-generation sequencing, we have come to understand cancer as a genomic disorder affecting key genes in cell growth and survival pathways. Cancer is a disease of driver mutations, often in multiple genes, which come in a plethora of forms. Cancer mutations includes small variations, copy number alterations (CNAs), gene fusions, alternative splicing, changes in gene expression, and more. We must assess the different types of cancer mutations to accurately determine prognosis and make therapeutic decisions. Tumor purity and heterogeneity reduce the variant allele frequency (VAF) of mutations in cancer samples to boot, so we must also be robust against low representation alleles.