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PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor

✍ Scribed by Agnès Chompret; Caroline Kannengiesser; Michel Barrois; Philippe Terrier; Philippe Dahan; Thomas Tursz; Gilbert M. Lenoir; Brigitte Bressac-De Paillerets

Book ID
119757450
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
185 KB
Volume
126
Category
Article
ISSN
0016-5085

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Rectal gastrointestinal stromal tumors a
Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation
✍ Agnieszka Woźniak; Piotr Rutkowski; Raf Sciot; Włodzimierz Ruka; Wanda Michej; M 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 French ⚖ 326 KB

## Abstract Somatic, activating mutations of __KIT__ or __PDGFRA__ are early oncogenic events in the majority of sporadic gastrointestinal stromal tumors (GISTs). Also a number of families with GISTs have been described in recent years. The familial GIST syndrome is a rare autosomal dominant disord