A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy

A ser891ala RET proto-oncogene mutation has been previously discovered in a single kindred with familial medullary thyroid carcinoma (FMTC). An additi onal two probands with this mutation and with medullary thyroid carcinoma ( MTC) without any other manifestations of MEN 2 have been identified. In one of thse families, two Other individuals also had the mutant sequence and F MTC. Analysis of both cases showed cosegregation of he mutation and MTC. To facilitate detection of this mutation, a primer was engineered which creat es a Hha I recognition site in the presence of the mutant sequence. As a re sult, this codon 891 exon 15 mutation can be identified with a restriction enzyme digestion. (C) 1999 Academic Press.