Conclusions
From this study, it can be concluded that uveal melanoma is a heterogenous disease because the genetic mutations were predominantly non-recurrent (130 total). This aggressive and heterogenous nature is a very common characteristic of most types of melanomas and serves as important information for determining what would be an appropriate form of treatment for UM patients. The pareto analysis uncovered that the frequency of the recurrent genetic mutations ranged from 8.7% to 17.39%, indicating that these mutations were likely caused by the cancer and not due to single nucleotide polymorphism. To confirm this inference, the functions of all the mutated genes were researched, and the recurrent ones were studied extensively. For example, the most recurrent gene, ALG1L2, codes for transferase activity, or transfer of glycosyl groups. This activity plays a critical role in determining the structure, stability, and function of a protein. It was also found that most of the non-recurrent genes that were mutated coded for transcription factors and tumor suppressors – proteins that, when defective, are known to cause other cancers.
The genetic mutations were homozygous, meaning that uveal melanoma is a recessive disorder, which explains the rarity of this cancer. They were observed to be missense mutations, resulting from single base mismatches within the protein coding regions of the DNA. The other two type, frameshift and nonsense mutations, were not found within any of the samples that were analyzed. All of the recurrent genetic mutation that were found in this study have not been listed in any source of literature, suggesting that these are potentially new and yet undiscovered mutations responsible for uveal melanoma, and likely responsible for other cancers (as the same genetic mutations are often responsible for multiple types of cancers, such as genetic mutation in BRAF V600E, TP53, and CDKN2A have high recurrence in cutaneous melanomas).