FREQUENCY OF P-53 GERMLINE MUTATIONS IN CHILDREN WITH MALIGNANT TUMORS

Recent studies have demonstrated the presence of germline mutations in some families with Li-Fraumeni syndrome and hence a role of p-53 mutations in hereditary susceptibility to cancer. Since Li-Fraumeni syndrome comprises many childhood cancer types, we screened 65 children with malignant tumors for p-53 germline mutations. We examined p-53 exons 2-11 by polymerase chain reaction amplification of genomic sequencing. Only one de novo mutation, at exon 7, codon 248 (C-T), was identified in a patient with rhabdomyosarcoma who did not fully fit the clinical criteria of Li-Fraumeni syndrome. Although the frequency of germline p-53 mutations in all childhood malignant tumors was low (one in 65), it was relatively high (one in 15) in rhabdomyosarcoma.

Keywords: Inherited mutations/p-53 gene/li-fraumeni syndrome