Biological effect of novel mutation of the RET gene associated with multiple endocrine neoplasia type 2.

Project leader: Martina Poturnajová
Project duration: 2008 - 2010

The main goal of the proposed study is to investigate the biological effect of dual RET gene mutation, which we observed in a MEN 2A family. A novel RET gene point mutation in exon 11 (Ala641Ser) together with the well known pathogenic Cys634Ser mutations give us a rather rare opportunity to study the genotype/phenotype correlation. Availability of the biological material from the mutations -carriers, which underwent the surgical treatment enable us to follow molecular biological parameters from medullary thyroid carcinoma, pheochromocytoma, lymphocytes and tumor-surrounding cells (fibroblasts). Understanding of the biological significance of the mutations under investigation could contribute to further knowledge of the basic mechanisms underlying cancer and therefore help translate this into the clinical settings. Testing of new cell strain derived from young patient’s tumor could exploit the knowledge to develop target cancer therapy against this highly aggressive and resistant tumor.

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