| Title | Multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma: Turkish experience. | | Author(s) | Erdogan MF, Gursoy A | | Institution | Ankara University, School of Medicine, Department of Endocrinology and Metabolic Diseases, Ankara, Turkey. murat.erdogan@temd.org.tr | | Source | Pediatr Endocrinol Rev 2006 Aug.:503-7. | | MeSH | Carcinoma, Medullary
Female
Genetic Screening
Germ-Line Mutation
Heterozygote
Humans
Male
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2b
Pedigree
Retrospective Studies
Thyroid Neoplasms
Turkey
| | Abstract | Multiple endocrine neoplasia type 2 (MEN 2) is a rare autosomal dominantly inherited familial cancer syndrome caused by mutations in the ret proto-oncogene. MEN 2 has three distinct subtypes, which are MEN 2A, MEN 2B and familial medullary thyroid carcinoma. Identification of a disease gene has enabled a DNA-based strategy for detection of direct mutation in patients with MEN 2 syndromes and in patients with sporadic medullary thyroid carcinoma. The identification of mutations responsible for MEN 2 syndromes has resulted in the routine identification of gene carriers early in life before the development of disease, causing timely prophylactic thyroidectomy in these patients. This report includes our clinical and molecular experience on Turkish MEN 2 families and patients with sporadic medullary thyroid carcinoma diagnosed and treated between 1994 and 2005. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 17551473 |
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