Article
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Cancer genetics and cytogenetics - 15 Apr 2006
Martinelli Simone, Carta Claudio, Flex Elisabetta, Binni Francesco, Cordisco Emanuela Lucci, Moretti Sonia, Puxeddu Efisio, Tonacchera Massimo, Pinchera Aldo, McDowell Heather P, Dominici Carlo, Rosolen Angelo, Di Rocco Concezio, Riccardi Riccardo, Celli Paolo, Picardo Mauro, Genuardi Maurizio, Grammatico Paola, Sorcini Mariella, Tartaglia Marco
Abstract excerpt
The PTPN11 gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase functioning as a signaling transducer. Germ-line PTPN11 mutations cause Noonan syndrome (NS), a developmental disorder characterized by an increased risk of malignancies. Recently, a novel class of activating mutations in PTPN11 has been documented as a somatic event in a heterogeneous group of leukemias. Because of the...
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