Research Information System
Pediatric Endocrinology Reviews, vol.3, no.SUPPL. 3, pp.503-507, 2006 (SCI-Expanded)
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.