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GENATLAS PHENOTYPE
last update : 15/12/06
Symbol FGIST
Location 4q12
Name predisposition to familial gastrointestinal stromal tumors
Corresponding gene KIT
Main clinical features
  • predisposition to GISTs, in some cases associated with cutaneous hyperpigmentation.
    • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    neoplasia
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   over-expression germline c-kit mutation affecting either the juxtamembrane domain or the tyrosine kinase domain
    Remark(s) most mutations of the KIT gene are somatic and observed in sporadic cases of GIST
    Genotype/Phenotype correlations peculiar association of mast cells, melanocytic dysfunction, and GIST predisposition in carriers of c-kit mutations within the juxtamembrane domain