Studies on sequencing analyses of genetic and epigenetics features in melanoma and breast cancer
MetadataVis full innførsel
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.
Består avPaper I: Einar Birkeland, Shaojun Zhang, Deepak Poduval, Jurgen Geisler, Sigve Nakken, Daniel Vodak, Leonardo A. Meza-Zepeda, Eivind Hovig, Ola Myklebost, Stian Knappskog and Per E. Lonning. Patterns of genomic evolution in advanced melanoma. Nature Communications 9: 2665. (2018). The article is available at: https://hdl.handle.net/1956/19784
Paper II: Deepak B. Poduval, Elisabet Ognedal, Zuzana Sichmanova, Eivind Valen, Gjertrud T. Iversen, Laura Minsaas, Per E. Lønning and Stian Knappskog. Assessment of tumor suppressor promoter methylation in healthy individuals. Clinical Epigenetics 12: 131. (2020). The article is available in the thesis file. The article is also available at: https://doi.org/10.1186/s13148-020-00920-7
Paper III: Deepak Poduval, Zuzana Sichmanova, Anne Hege Straume, Per E. Lonning and Stian Knappskog. The novel microRNAs hsa-miR-nov7 and hsa-miR-nov3 are overexpressed in locally advanced breast cancer. PLOS ONE 15(4): e0225357. (2020). The article is available in the thesis file. The article is also available at: https://doi.org/10.1371/journal.pone.0225357