Onkológia 2/2010

Hereditary form of malignant melanoma associated with mutations in CDKN2A gene

Malignant melanoma belongs to the most aggresive type of tumour diseases with high degree of mortality. Each year, about 2700 newly diagnosed cases of skin cancer and about 370 cases of malignant melanoma are recorded in Slovakia (1). The definitive and detectable reason of cancer onset remains partly unknown, and represents a combination of influence of several risk factors mainly based on the enviroment. According to published data 10 % of all skin cancers may be contributed to inherited mutation in appropriate gene and is later expressed as hereditary malignant melanoma. The main susceptibility gene associated with hereditary malignant melanoma is CDKN2A. Gene mutations display the most important risk factor, which increases by multifold the onset of melanoma and also other tumors. Therefore, molecular-genetic testing of CDKN2A mutations aims to detect persons at the risk, consequently adjust their preventive management and thus allow early diagnosis and therapy of the cancer disease.

Keywords: malignant melanoma, CDKN2A gene, pathogenic mutation, molecular-genetic analysis.