[HTML][HTML] Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

P Johansson, LG Aoude, K Wadt, WJ Glasson… - Oncotarget, 2016 - ncbi.nlm.nih.gov
P Johansson, LG Aoude, K Wadt, WJ Glasson, SK Warrier, AW Hewitt, JF Kiilgaard
Oncotarget, 2016ncbi.nlm.nih.gov
Next generation sequencing of uveal melanoma (UM) samples has identified a number of
recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ,
GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor
type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell
lines. These samples have a low mutation burden, with a mean of 10.6 protein changing
mutations per sample (range 0 to 53). As expected for these sun-shielded melanomas the …
Abstract
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell lines. These samples have a low mutation burden, with a mean of 10.6 protein changing mutations per sample (range 0 to 53). As expected for these sun-shielded melanomas the mutation spectrum was not consistent with an ultraviolet radiation signature, instead, a BRCA mutation signature predominated. In addition to mutations in the known UM driver genes, we found a recurrent mutation in PLCB4 (c. G1888T, p. D630Y,
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