A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm.

摘要: A novel germline p53 splicing mutation was identified in a pediatric patient with two metachronous primary cancers that are constituent tumors of the Li-Fraumeni syndrome. Genomic DNA from second tumor showed same and loss heterozygosity at locus. The mutant mRNA protein were present tissue. In contrast, normal tissues bearing heterozygous state, predominantly expressed not detectable. functional silence relative lack expression this may be caused by decreased stability or production. If proves more general pattern individuals mutations, these findings explain paucity affected