CUR - The Council on Undergraduate Research

Using cBioPortal to Detect Genes Involved in Skin Melanoma

Edwin Girald, Science and Technology Department, Inter American University of Puerto Rico at Aguadilla, PO Box 20000. Aguadilla, PR 00605 Nathan Reyna Ph.D., Department of Biology, Ouachita Baptist University, 410 Ouachita St. Arkadelphia, AR 71998 Elizabeth Padilla-Crespo Ph.D., Science and Technology Department, Inter American University of Puerto Rico at Aguadilla, PO Box 20000. Aguadilla, PR 00605

The main objective of this research was to identify specific genes involved in the manifestation of skin melanoma. Skin melanoma is a genetic disease that can be inherited rough various genetic components, this means that it can be transmitted from generation to generation and further affect otherwise healthy individuals. By researching available genetic data on the selected disease, the following hypothesis was established: the presence of the mutated genes CDKN2A, PCLO, LRP1B, and MGAM help in the manifestation of skin cutaneous melanoma. Using the open-source platform known as cBioPortal for Cancer Genomics, we located specific genes involved in disease manifestation and identified those that work in conjunction to alter or mutate others. The portal helped visualize and analyze the data on the expression of specific genes involved in the manifestation of skin melanoma which indicated that 79.76% of the 444 patients had diverse mutations related to the above-mentioned genes. The selected genes presented a diverse number of mutations. For example, the PCLO gene presented 552 mutations with a 49% alteration frequency, the LRP1B gene presented 432 mutations with a 48% alteration frequency, the MGAM gene presented 294 mutations with a 41% alteration frequency, and CDKN2A exhibited 62 mutations with an alteration frequency of 38%. We concluded that altered versions of CDKN2A, PCLO, LRP1B, and MGAM interact with each other to cause skin melanoma cancer. 
 

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