Article
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.
The International journal of biological markers - 23 Dec 2016
Zampiga Valentina, Danesi Rita, Tedaldi Gianluca, Tebaldi Michela, Cangini Ilaria, Pirini Francesca, Pittureri Cristina, Amaducci Elena, Guidi Luciano, Faedi Marina, Amadori Dino, Falcini Fabio, Calistri Daniele
Abstract excerpt
Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder occurring at a young age that predisposes individuals to multiple forms of cancer and to a heterogeneous spectrum of malignancies. We describe the clinical history of a patient who had 5 primary malignant cancers and a familiar history consistent with LFS. We analyzed the genomic DNA of the proband and her relatives by next-generation sequencing (NGS)...
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