The first systematic documentation of a hereditary cancer family was reported over 100 years ago by Aldred Scott Warthin, M.D., Ph.D. With the continued efforts of many scientists it was finally accepted that cancer was a genetic disease. In fact, to reflect the recent revolution in cancer research and the discoveries made, it should be stated that cancer is a genomic disease, or a disease of the genome. Over the last 10-15 years, breakthroughs in the identification of many important genes have significantly improved our understanding of cancer pathogenesis. At the foundation of this discovery era was the wealth of information provided by the Human Genome Project. The intent of this chapter is to review the genes known to be associated with hereditary forms of cancer/cancer syndromes, and highlight examples of pathways in which the products of these genes interact. We also indicate where current knowledge is limited and where further investigation may be warranted.
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