Investigation of Unknown Causes of Uveal Melanoma Uncovers Seven
Recurrent Genetic Mutations
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.