Studies on sequencing analyses of genetic and epigenetics features in melanoma and breast cancer

Abstract

The dissertation includes 3 projects and in each work we applied different approaches to sequencing and bioinformatics analyses to gain a better understanding of the molecular characteristics of breast cancer and melanoma. In the first project (paper I) we applied whole exome sequencing to samples from patients with metastatic melanoma. We assessed intra patient heterogeneity and we identified several general patterns of tumor evolution in this malignancy. In the second project (paper II) we used promoter methylation-specific sequencing and analysed the variation of promoter methylation of tumor suppressors in healthy individuals. As such, we also established a cost-effective method to study promoter methylation as a potential modulator of cancer risk. In the third project (paper III), we used microRNA sequencing and identified novel miRNAs that were overexpressed in breast cancer patients. Two of these were selected for further investigation focusing on their potential biological roles in breast cancer.