[The direct gene test in familial medullary thyroid gland carcinoma and in MEN syndromes. Detection of mutations in the ret proto-oncogene saves screening studies].
Multiple endocrine neoplasias, type 2A and type 2B (MEN2A, MEN2B), and familial medullary thyroid carcinoma (FMTC) have an autosomal dominant mode of inheritance. The risk of passing on the disease is almost 50%. Early diagnosis and surgical intervention largely prevents aggressive metastasis of thyroid carcinoma, the main cause of death. The diagnostic possibilities have been much improved by the implementation of direct gene testing. Exclusion of the inheritance of a parental mutation in the RET proto-oncogene removes the potential risk of progeny contracting the disease, and obviates the need for the usual annual screening from age 5 years onward. In many of those cases in whom a mutation is detected, prophylactic surgical intervention should be considered.
Stuhrmann
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Abteilung für Humangenetik, Medizinischen Hochschule Hannover.
D000293:Adolescent; D000328:Adult; D000368:Aged; D018276:Carcinoma, Medullary / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D012307:Risk Factors; 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