A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.
Demeester
R
R
Molecular Genetics, University Hospital Erasme, Free University of Brussels (ULB), B-1070 Brussels, Belgium.
Parma
J
J
Cochaux
P
P
Vassart
G
G
Abramowicz
M J
MJ
D000328:Adult; D000368:Aged; D001530:Belgium; D018276:Carcinoma, Medullary / Q000235:genetics*; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D019683:Penetrance; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila