Genetic screening for RET mutations in families with multiple endocrine neoplasia 2 syndromes.
Mutations in the RET proto-oncogene have recently been recognized to be responsible for the inherited multiple endocrine neoplasia type 2 syndrome. As expected, Greek patients with MEN2 and FMTC carry RET mutations similar to those of other ethnic groups. In those regions of the gene that were analyzed, mutations were detected in six out of six families with classical MEN2A, three out of five of the families with familial MTC, and one case with MEN2B. Presymptomatic screening using DNA analysis has now replaced calcitonin stimulation tests in the offspring of families where the mutation has been characterized. The use of these methods will improve the prognosis in MEN2 patients and will also reduce the psychological burden of risk for a potentially lethal disease on family members.
Alevizaki
M
M
Department of Medical Therapeutics, Alexandra University Hospital, Athens, Greece.
Sarika
H
H
Koutras
D A
DA
Souvatzoglou
A
A
D029721:Drosophila Proteins; D005820:Genetic Testing; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D009154:Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013577:Syndrome
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