FP6 priority
1.1.1   Genomics and Biotechnology for Health
1.1.2.2
Title of the proposal

Mutations of RET Proto-Oncogene and Multiple Endocrine Neoplasia
Institute
Slovak Academy of Sciences, Cancer Research Institute
Vlarska 7, 833 91 Bratislava, Slovak Republic
www.exon.sav.sk
Contact
Name:
Veronika ALTANEROVA, PhD.
Phone:
+421 2 59327260
E-mail:
exonalta@savba.sk


Research subject for a potential FP6 project

Germ line mutations of RET proto-oncogene are connected with inherited cancer syndrome multiple endocrine neoplasia type 2. The syndrome is characterized by incidence of medullary thyroid carcinoma frequently associated with pheochromocytoma and hyperparathyroidism. Genetic testing of family members at risk significantly contributed to diagnosis and management of MEN 2. Different mutations in RET gene are related to various type of the disease outcome.
  • We are interested in mapping of incidence of RET gene mutations in different popula-tions in connection with different phenotype of diseases. It is obvious that the inherited RET gene mutation is an initial step in tumor induction and other gene mutations have to follow to reach the complete malignant phenotype of medullary thyroid gland cell or pheoochromocytoma.
  • We are interested in genes, which might be responsible for accelerated penetration of the disease. These might include the detection of mutations in tumor suppressor genes (for instance p53), and genes involved in control of cell division (pRb, p16, p15).
    An increasing incidence of papillary thyroid carcinoma (PTC) was observed in the population giving external radiation, especially with the population effected by atomic irradiation caused by the Chernobyl atomic power plant accident.
  • We are also interested in PTC, especially those containing activated RET proto-oncogene due to the rearrangements of this gene.


    • Recent international cooperation of the research team

    Molecular Biology Unit
    Faculty of Agronomy,
    Gembloux, Belgium


    Proposerīs relevant publications related to the research subject

    Feikova S., Grohmanova K., Altanerova V., Altaner C.: Detection of point mutation in ret oncogene associated with predisposition to human thyroid carcinoma development. Chem. Papers (Focus Issue) 52, 636 (1998).
    ALTANEROVA, V.: Cancers connected with mutation in RET proto-oncogene. MinireviewNeoplasma, 2001, 48, 325-331.
    Poturnajova, M. Altanerova, V., Kettmann, R. Feikova, S. Hlubinova, K., Balazovjech, I. Breza, J. Fodor, G. Knotek, J. Matoska, J. Podobova, M. Altaner, C.: Germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2. Neoplasma, 2001, 48, 445-450.