title: De novo germline mutations of the p53 gene in young children with sarcomas.
abstract: Germline p53 mutations are associated with cancer predisposition in Li-Fraumeni families as well as in individuals with component tumors of the syndrome. In the majority of cases these mutations have been shown to be inherited rather than de novo. We screened 59 children with primary bone or soft tissue sarcomas. Germline p53 mutations were identified in 2 patients. Interestingly, analysis revealed that both mutations were de novo. Although the frequency of germline p53 mutations in primary pediatric sarcoma patients is low, there is evidence for the importance of considering pediatric patients for testing for de novo mutations.
authors: UNIV ISTANBUL,INST ONCOL,DIV PEDIAT ONCOL,TR-34390 ISTANBUL,TURKEY. UNIV TEXAS,MD ANDERSON CANC CTR,DEPT MOL GENET,HOUSTON,TX 77030. UNIV TEXAS,MD ANDERSON CANC CTR,DEPT PEDIAT,HOUSTON,TX 77030. UNIV TEXAS,MD ANDERSON CANC CTR,DEPT EXPT PEDIAT,HOUSTON,TX 77030.
authors: I
authors: I
authors: Ayan
authors: J
authors: J
authors: Luca
authors: N
authors: N
authors: Jaffe
authors: L
authors: L
authors: Strong
authors: M
authors: M
authors: Hansen