Article
[Genome research project detected TP53mutation in a girl with rhabdomyosarcoma].
Ugeskrift for laeger - 9 Aug 2021
Behrendt-Møller Ida, Stoltze Ulrik, Hjalgrim Lisa Lyngsie, Hansen Thomas van Overeem, Schmiegelow Kjeld, Wadt Karin
Abstract excerpt
In this case report, a germ line genome project identified a pathogenic variant in TP53 in a three-year-old girl diagnosed with rhabdomyosarcoma. The variant causes the cancer predisposition syndrome Li-Fraumeni syndrome (LFS). The girl's family was genetically counselled, and the same variant was identified in her mother and sister. The family was afterwards offered surveillance according to national guidelines....
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