Abstract

Purpose:Understanding mutational spectrum associated with Uveal Melanoma(UM)within an Indian
cohort of subjects at different stages of malignancyDesign:Custom targeted Next Generation Sequencing(NGS)panel was designed to detect SNVs(single nucleotide variant)and Copy Number Variants (CNVs)in key genes as well as chromosomal regions.Panel included probes to capture exonic SNVs across 77 candidate genes as well as CNVs across the commonly implicated chromosomes1,3,6,8.NGS libraries were constructed for 3 frozentissue enucleated samples with 2 healthy controls,sequenced and processedResults:Deleterious SNVs identified in SF3B1,GNAQand GNA11key genes implicated in Uveal melanomaPathogenic Variants also identified in secondary genesCSMD1,ZNF835,TMEM201,CSMD1,PARP8,MAGI1,NTRK2.Each sample identified unique variants with variants shared across at least two samples.Conclusion:Preliminary findings align with those from other studies that identified pathogenic mutations in-SF3B1,GNAQ andGNA11

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