Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

Abstract excerpt

We describe two Li-Fraumeni syndrome families. Family A was remarkable for two early childhood cases of adrenocortical tumours, family B for a high incidence of many characteristic cancers, including a childhood case of choroid plexus tumour. Using direct sequencing, we analysed exons 5-9 of the p53 gene in constitutional DNA of individuals from both families and found two novel germline mutations in exon 5. In...

Topics

• Adolescent
• Adult
• Aged
• Alleles
• Child
• Child, Preschool
• Female
• Genes, p53
• Germ-Line Mutation
• Humans
• Infant
• Li-Fraumeni Syndrome
• Loss of Heterozygosity
• Male