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).