Paediatria Croatica, Vol. 53 No. 4, 2009.
Review article
Molecular genetics and pharmacogenetics in pediatric oncology
Sanja Kapitanović
orcid.org/0000-0001-8788-3085
; Institut Ruđer Bošković
Abstract
Cancer is defined as an uncontrolled proliferation of cells that results in the transformation of a normal cell into a cancer cell. Progress in molecular genetics has led to our understanding of cancer as a genetic disease. Cancer is the result of many genetic changes in oncogenes, tumor-suppressor genes and MMR genes that lead to the development of a primary tumor from a previously normal cell and then to the growth, progression, and spread of this tumor to distant parts of the body (metastasis). With the complete sequence of the human genome available, individualized medicine may soon become reality. Most patients show large interindividual variability in drug response. For chemotherapeutics given at standard doses, a substantial proportion of patients do not respond, respond only partially, or experience adverse drug reactions. Pharmacogenetics deals with inherited differences in the response to drugs. A major limitation that moderates the use of pharmacogenetic testing in the clinical setting is the lack of prospective clinical trials demonstrating that such testing can improve the benefit/risk ratio of drug therapy. Pharmacogenetic profiles database establishment is important for future research studies in the field of pharmacogenetics of childhood malignancies.
Keywords
Descriptors: NEOPLASMS – diagnosis, genetics; CYTOGENETICS – methods; CYTOGENETIC ANALYSIS – methods
Hrčak ID:
48224
URI
Publication date:
17.12.2009.
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