Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P10721 (
c-kit
)
6,575
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Germline mutations in one of two alleles of c-ret, c-met and
c-kit
protooncogenes have been revealed to be the causes of three autosomal dominant hereditary tumors; multiple endocrine neoplasia type 2(MEN2), hereditary papillary renal cell carcinoma (HPRCC), and familial gastrointestinal stromal tumor(FGIST), respectively. Patients with MEN2A have missense mutations at extracellular cysteine rich domain of c-ret, those with
MEN2B
have missense mutations at tyrosine kinase domain of c-ret, those with HPRCC have missense mutations at tyrosine kinase domain of c-met, and those with FGIST have in-frame deletion mutations at juxtamembrane domain of
c-kit
. All of these mutations are assumed to cause constitutive activation of protooncogenes without binding to ligands, resulting in tumor formation.
...
PMID:[Mechanism of carcinogenesis by germline mutation of protooncogene in hereditary tumors]. 1087 45
