Searchable abstracts of presentations at key conferences in endocrinology

ea0011p513 | Endocrine tumours and neoplasia | ECE2006

A rare RET gene mutation is found in two apparently unrelated Greek kindreds with familial medullary thyroid carcinoma

Mytakidis N , Zachariou M , Anagnostopoulos T , Vassiliou E , Thomas D , Tertipi A , Rampias T , Konstantopoulou I , Natsis P , Yannoukakos D , Kaldrymidis P

Familial medullary thyroid carcinoma (FMTC) is caused by germ-line mutations in the RET proto-oncogene. These mutations concern mainly exons 10 and 11, whereas mutations in exons 13–16 are rare. Mutations in exon 8 have been reported in the literature only twice.We performed direct analysis of exons 7–19 and 21 of RET gene in two apparently unrelated Greek index-patients with FMTC, presenting negative initial screening for mutations in exons 10...