A paragraph describing the group
Etiology of cutaneous malignant melanoma includes evironmental and genetic components. CDKN2A gene represents major susceptibility gene and low risk alleles, such as MC1R gene, and environmental exposure may combine to increase risk of melanoma. Since recently little was known about factors that influence development of cutaneous melanoma in Slovenia.
After years of treating melanoma patients at the surgical department, a need for better understanding of the Slovenian population of patients has occured. In the year 2001 we started collecting DNA samples from patients with characteristics of familial melanoma and their relatives. At the begining 11 index patients and 8 of their healthy relatives were included in the study. Sequencing of the CDKN2A gene revealed mutation in 10 individuals belonging to 5 different families. That represents 45 percent prevalence of mutation in tested group of patients. A novel heterozygous mutation of CDKN2A coding region was discovered, causing a substitution of leucin to glutamine at amino acid position 94 (L94Q) in the ankyrin domain of p16. Others were already described mutations and a common polymorphic variant. Additionaly 3 children with melanoma, all under the age of 10 and without characteristic of familial disease, were tested and proved mutation negative.
Since then we collected another 22 DNA samples from patients with familial form of melanoma and broadened our field of research to p14ARF and MC1R gene. Presence of MC1R polymophisms in this population of patients is currently under the study. Acquired results will give us insight into risk factors that lead to development of cutaneous melanoma in our patients.
Joint work of molecular biologists and surgical oncologists gives us opportunity to monitor progress and outcome of the disease in the presence of mutation and enables us to advise patients and their relatives. |
