Cancers connected with mutations in RET proto-oncogene.
Germline mutations of RET proto-oncogene are connected with inherited cancer syndrome multiple endocrine neoplasia type 2. The syndrome is characterized by incidence of medullary thyroid carcinoma frequently associated with pheochromocytoma and hyperparathyroidism. Genetic testing of family members at risk significantly contributed to diagnosis and management of MEN 2. Early genetic screening for RET mutations allow to detect people who have inherited the MEN2 specific RET mutation with subsequent possibility to of prophylactic thyroidectomy. On the other hand those family members at risk of MEN 2 who had not inherited the mutation do not require further testing. The involvement of RET proto-oncogene in tumorigenesis is reviewed.
Altanerová
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Cancer Research Institute, Slovak Academy of Sciences, Bratislava. exonalta@savba.sk
D003062:Codon; D029721:Drosophila Proteins; D005091:Exons; D018095:Germ-Line Mutation; D006801:Humans; D008957:Models, Genetic; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D009154:Mutation; D010641:Phenotype; 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*
D003062:Codon; 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