Article
p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome.
Oncogene - 8 Jul 1999
Quesnel S, Verselis S, Portwine C, Garber J, White M, Feunteun J, Malkin D, Li F P
Abstract excerpt
The Li-Fraumeni Syndrome (LFS) is a rare, dominantly inherited syndrome that features high risk of cancers in childhood and early adulthood. Affected families tend to develop bone and soft tissue sarcomas, breast cancers, brain tumors, leukemias, and adrenocortical carcinomas. In some kindreds, the genetic abnormality associated with this cancer phenotype is a heterozygous germline mutation in the p53 tumor...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.