This chapter examines the leukocytes and tumor tissue of patients with brain tumors for p53 mutations. Because most mutations that occur in the p53 gene are single base pair mutations, a technique sensitive for the detection of such alteration using RNA single-strand conformational polymorphisms (rSSCP) has been developed. The determination of the genetic cause(s) and pathway(s) of oncogenesis for human cancers is important so that effective diagnosis and treatment modalities may be developed. These pathways are thought to vary from one tumor type to another, although the components are often the same negatively and positively acting gene product cell-cycle regulators. An important negative regulator of tumorigenesis is the p53 protein. The inactivation of the gene by mutation or of the p53 protein itself by oncogene products of tumor viruses is important in several tumors. Germline p53 mutations in patients from pedigree affected with Li-Fraumeni syndrome have also been shown to predispose carriers to a higher incidence of initial primary and second primary cancers, such as brain tumors, sarcomas, leukemias, breast carcinomas, and other neoplasms. Thus, the detection of somatic or germline mutations are important influences in the treatment and prognosis of these patients.
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