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Table 1 Germline Mutations Associated with GIST Predisposition and Associated Clinical Features

From: Inherited gastrointestinal stromal tumor syndromes: mutations, clinical features, and therapeutic implications

Gene (Exon) Mutation General Clinical Features Reference
C-KIT (11) V559del Hyperpigmentation, urticaria pigmentosa, dysphagia Nishida 1998[9]
  CAACTTdup   Carballo 2005[11]
  V559A   Beghini 2001[30]
  W557R   Maeyama 2001[31]
    Robson 2004[26]
C-KIT (17) D820Y Dysphagia but no hyperpigmentation Hirota 2002[32]
C-KIT (13) K642E No hyperpigmentation and no urticaria pigmentosa Isozaki 2000[33]
    Graham 2007[34]
PDGFRA * D846Y Large hands Chompret 2004[35]
  Y555C Lipomas and small intestine fibrous tumors de Raedt 2006[36]
  V561D   Pasini 2007[37]
NF1** Many various mutations in NF1 gene (>300 identified) Café au lait spots, dermal neurofibromas, axillary/inguinal freckling, ocular hamartomas Relles 2010[38]
SDHB, SDHC, and SDHD *** SDHB IVS1 + 1 G → T Paraganglioma and pheochromocytoma Carney 2002[39]
  SDHB c.423 + 1 G → C (Carney-Stratakis Syndrome) McWhinney 2007[40]
  SDHB c.45_46insCC   
  SDHC c.43 + 1 C → T   
  SDHC IVS5 + 1 G → A   
  SDHD c.57delG   
  1. *Platelet derived growth factor receptor-alpha.
  2. **Neurofibromin 1.
  3. ***Succinate dehydrogenase (B, C, and D).