Skip to main content
. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: Ophthalmology. 2019 Nov 18;127(5):668–678. doi: 10.1016/j.ophtha.2019.11.009

Figure 1. UM patient with germline PALB2 mutation with evidence of biallelic inactivation of PALB2 in the tumor.

Figure 1.

A) Whole exome sequencing of germline DNA (PB) and tumor tissue (T) identified a germline canonical splice site variant c.3201+1G>C with a somatic frameshift mutationc.3279delT:p.Ile1093fs in PALB2. B) Variants were confirmed by direct sequencing. C), Mutation signatures from the patient’s tumor were significant for SBS39 and SBS1 which are commonly reported in sporadic UM. D) The expression of PALB2 mRNA was significantly lower in the tumor tissue from the patient compared to the matching non-tumor choroid.