title: Molecular diagnosis of multiple endocrine neoplasia Type 2.
abstract: Multiple endocrine neoplasia Type 2 is a rare familial cancer syndrome transmitted in an autosomal dominant manner. It is characterized by the association of medullary thyroid carcinoma with pheochromocytoma and hyperparathyroidism. Medullary thyroid carcinoma, present in virtually all patients, is the principal cause of death. In 1993, germline mutations in the RET proto-oncogene were identified as the underlying cause of the syndrome. Genetic screening of at-risk family members can now be performed with high specificity and sensitivity. The ability to determine gene carrier status at a preclinical stage is of great value as it allows early prophylactic thyroidectomy. The specific RET codon mutation correlates with clinical variants of the syndrome, age at onset and aggressiveness of medullary thyroid carcinoma. This review will focus on mutational spectrum, genotype-phenotype correlations and clinical decisions based on genetic information.
authors: Serviço de Endocrinologia e Laboratório de Biologia Molecular, Instituto Português de Oncologia Francisco Genril, Centro Regional de Oncologia de Lisboa, SA, R. Prof. Lima Basto, 1099-023 Lisboa Codex, Portugal. mjbugalho@ipolisboa.min-saude.pt
authors: Maria João
authors: MJ
authors: Bugalho
authors: Rita
authors: R
authors: Domingues
authors: Luís
authors: L
authors: Sobrinho
mesh_terms: D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D025202:Molecular Diagnostic Techniques; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics / Q000378:metabolism
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases