Germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2

• Published in: Neoplasma Vol. 48; no. 6; pp. 445 - 450
• Main Authors: Poturnajova, M, Altanerov, V, Kettmann, R, Feikova, S, Hlubinova, K, Balazovjech, I, Breza, J, Fodo, G, Knotek, J, Matoska, J, Podobov, M, Altaner, C
• Format: Journal Article
• Language: English
• Published: Slovakia 2001
• Subjects: Adolescent; Adult; Drosophila Proteins; Exons - genetics; Female; Genetic Predisposition to Disease - genetics; Germ-Line Mutation - genetics; Humans; Male; Middle Aged; Multiple Endocrine Neoplasia Type 2a - genetics; Multiple Endocrine Neoplasia Type 2b - genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-ret; Receptor Protein-Tyrosine Kinases - genetics; Slovakia; Slovakia
• ISSN: 0028-2685

Detection of mutations in RET proto-oncogene in Slovak families from different localities and of different ethnic origin with MEN 2 syndrome is reported. Despite the fact that the same mutation of RET oncogene was found in different family members, the latency period of tumor appearance and their pathogenicity differed substantially. In addition, also different phenotypes of the disease were expressed in various family members having the same RET gene mutation. The data indicate that the mechanism of MEN2 syndrome is not only due to the RET gene mutation, and strongly support the conclusion that additional genetic events are involved in the disease formation.