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Investigation of Unknown Causes of Uveal Melanoma Uncovers Seven Recurrent Genetic Mutations
  • Hersh Nanda
Hersh Nanda
BASIS Chandler
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Abstract

The purpose of this research was to investigate which genetic mutations are responsible for Uveal Melanoma (UM), a rare subtype of melanoma but the most frequent primary cancer of the eye. Genome data of UM patients was obtained from U.S. National Institute of Health’s (NIH) National Library of Medicine. Data was obtained from samples that were surgically collected from eye enucleations or resected from liver metastases. The DNA sequence from the cancerous cells was compared to a reference DNA sequence (from normal tissue pairs) to identify any nucleotide base pair mismatches. Gene functions of mutated genes were studied to investigate possible causal links to cancer, such as anomalies in genes that coded for proteins with a known role in tumor repression. A total of 130 genetic mutations were discovered (seven recurrent and 123 non-recurrent), with most mutations occurring in chromosomes 3 and 23. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample. The recurring genetic mutations were observed as missense mutations in the following genes: ALG1L2, DMD, IL1RAPL2, KIAA0825, LOC440040, NXF2, and PHYHD1. The research revealed UM is a heterogenous disease with homozygous mutations and is a recessive disorder.