Irrefutable evidence exists that cancer is a genetic disease. However, there are myriad changes (mutations) in the genome that appear to contribute to cancer etiology. In the broadest context, any alteration in the genome resulting in abnormal gene regulation or expression (eg, point mutations, translocations, deletions, amplification) could be a viable candidate for aiding the initiation (or progression) of human cancer. Further, factors that affect the overall integrity of the genetic information (eg. defects in DNA repair pathways) markedly increase the probability of malignant disease. Finally, the role of specific cancer genes in both familial (eg. retinoblastoma) and more recently noninherited malignancies (eg, small cell lung cancer) is receiving increasing study. This brief overview addresses four basic aspects of the genetic basis of human cancer: 1) changes in cancer chromosomes, 2) new models for examining the various stages of cancer causation, 3) alterations (particularly loss) of specific cancer genes, and 4) gene amplification.
ASJC Scopus subject areas
- Cancer Research