Of the Syndrome

David R. Mole and Peter J. Ratcliffe

University of Oxford, Oxford, United Kingdom

Positional cloning of defective genes that underlie rare hereditary cancer syndromes, such as von Hippel-Lindau disease, has provided many important insights into more common nonhereditary malignancies and the fundamental cellular processes that are involved in oncogenesis. In general, the tumor suppressor functions defined by analysis of such genes have involved a direct role in the regulation of cell proliferation (such as the retinoblastoma gene product, Rb), a direct role in DNA repair (such as MSH2 and MLH1), or a role in linking DNA damage to the arrest of cellular proliferation and apoptosis (such as p53). Such functions fit readily into a simple genetic model of cancer whereby the accrual of mutations allows uncontrolled growth, and genomic instability reinforces the generation of mutant clones with an increasingly aggressive growth advantage.

Nevertheless tumor development involves many other processes, such as the maintenance of adequate blood oxygen delivery by induction of angiogenesis (indeed the Greek name cancer derives from the crab-like pattern of tumor neovasculature). Von Hippel-Lindau (VHL) disease is one of several hereditary cancer syndrome syndromes associated with excessive angiogenesis, and recent insights into the role of the VHL protein (pVHL) in the development of the abnormal microvasculature seen in this syndrome have led to a greater mechanistic understanding of tumor angiogene-sis and cellular oxygen sensing.

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