TY - JOUR T1 - Efficient Testing of the RET Gene by DHPLC Analysis for MEN 2 Syndrome in a Cohort of Patients JF - Anticancer Research JO - Anticancer Res SP - 2091 LP - 2095 VL - 25 IS - 3B AU - KALLIOPI PAZAITOU-PANAYIOTOU AU - ATHINA KAPRARA AU - LEDA SARIKA AU - THANASIS ZOVOILIS AU - IOULIA BELOGIANNI AU - IRAKLIS VAINAS AU - GEORGIOS NASIOULAS Y1 - 2005/05/01 UR - http://ar.iiarjournals.org/content/25/3B/2091.abstract N2 - Background: Multiple Endocrine Neoplasia type 2 (MEN 2) is an autosomal dominant inherited syndrome characterized by a strong predisposition for developing endocrine tumors. MEN 2 is caused by germline mutations in the ret proto-oncogene. We investigated the feasibility of using the DHPLC technique in mutation detection of the ret gene in members of MTC families. We compared DHPLC analysis with direct sequencing with regard to sensitivity, reliability, cost and time. Materials and Methods: Exons 10 and 11 were amplified with PCR from forty-three samples in seventeen unrelated Greek families and were analyzed for mutations by DHPLC and DNA sequencing. Results: Eight PCR amplicons showed a distinct non-wild-type DHPLC profile. Sequence analysis confirmed different nucleotide variations: six of them were localized in exon 10 and two in exon 11. Mutations were detected in five out of seventeen families tested (29%). Conclusion: None of the alterations detected by direct sequencing was missed by DHPLC. We conclude that DHPLC is a fast, sensitive, cost-efficient and reliable method for the scanning of ret germline mutations. Copyright© 2005 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved ER -