Article
Prenatal diagnosis in Li-Fraumeni syndrome.
Journal of pediatric hematology/oncology - 1 Sept 2004
Avigad Smadar, Peleg Dan, Barel Dalit, Benyaminy Hadar, Ben-Baruch Noa, Taub Ellen, Shohat Mordechai, Goshen Yacov, Cohen Ian J, Yaniv Isaac, Zaizov Rina
Abstract excerpt
PURPOSE: The hallmark of Li-Fraumeni syndrome (LFS), a familial cancer syndrome, is constitutional TP53 mutation. The authors addressed the complex question of predictive prenatal genetic testing for cancer risk associated with inheritance of TP53 mutation. METHODS: A classic LFS family including the proband (a 20-month-old boy with rhabdomyosarcoma), his 36-year-old father with osteosarcoma, and his 40-year-old...
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