RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

摘要: Background: RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants proto-oncogene including G691S and S904S have been suggested act as genetic modifiers at age onset MEN2. Aim: The aim this study is characterize clinically molecularly 7 Cypriot patients with familial medullary thyroid carcinoma (FMTC) 1 MEN2A also determine allelic frequencies S904S. Subjects methods: Seven probands from FMTC families were screened for presence variants. Additionally, 226 healthy Cypriots, who served controls analysed in an attempt compare those observed 8 patients. Results: clinical diagnosis was based on presentation supported biochemical findings. C618R mutation exon 10 identified all 15 relatives different families. No significant difference G691S/S904S allele between (4/16 or 25%) (124/452 27.4%) found. Conclusions: Mutational screening gene a common (C618R) (7 MEN2A) unrelated which may be explained by founder effect. no association linked disease.