| p53 is a cell cycle regulator that has a key role, not only in regulating G1/S-phase cell cycle progression, but also in monitoring DNA damage
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| Individuals with only one functional copy of the p53 gene are predisposed to develop a wide range of tumors, including sarcomas, carcinomas of the lung, breast, larynx and colon, brain tumors and leukemias. In common with retinoblastoma, this syndrome, called Li-Fraumeni syndrome, is rare and tumor cells in affected patients have defects in both copies of p53. Again like retinoblastoma, although the Li-Fraumeni syndrome is rare, the incidence of p53 mutations in common cancers is extremely high. Deletion of p53, in addition to allowing uncontrolled cell cycle progression, also permits replication of damaged DNA, leading to further carcinogenic mutations or gene amplification; it is perhaps not surprising therefore, that the most common genetic lesion in cancer is found in p53.
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