Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis.

@article{Hartmann2005NovelGM,
  title={Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis.},
  author={Karin Hartmann and Eva Wardelmann and Yongsheng Ma and Sabine Merkelbach-Bruse and Liane M. Preussner and Carla Woolery and Stephan Ernst Baldus and Thomas Heinicke and Juergen Thiele and Reinhard Buettner and B. Jack Longley},
  journal={Gastroenterology},
  year={2005},
  volume={129 3},
  pages={
          1042-6
        }
}
Gastrointestinal stromal tumors (GISTs) are often associated with activating KIT mutations, affecting regulatory domains of the KIT tyrosine kinase. Sporadic mastocytosis in adults is usually also caused by KIT mutations that, however, activate KIT by affecting the intracellular enzymatic site of the molecule. Most GISTs respond to KIT inhibitors that bind to the enzymatic site; in most cases of mastocytosis, however, the modified enzymatic site is not affected by these drugs. We present a… CONTINUE READING

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