Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma

Germline mutations in the tumor-suppressor gene p53 may be common among sarcoma patients who have a personal or family history of cancer, but not among those who do not. Of 196 sarcoma patients whose DNA was analyzed, eight germline mutations in the p53 gene were found. Five mutations were found in patients who had had multiple types of cancer or with a known family history of cancer. Three mutations were found in patients with no personal or known family history of cancer. Two of these mutations were considered to be new with the patient. Four mutations changed the amino acid composition of the protein for which the gene encodes, and four resulted in an abrupt termination of protein synthesis. None of these mutations were found among 200 healthy individuals. Individuals who have inherited mutations in tumor-suppressor genes may be more likely to develop cancer than other individuals. Identification of these mutations allows for genetic counseling of individuals who have inherited them.