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Table 1 Tumor genomic next generation sequencing (NGS) study reveals mutations in several genes, including somatic mutations in genes mutated in the sebaceous carcinoma COSMIC dataset (in bold)

From: Near complete response to Pembrolizumab in microsatellite-stable metastatic sebaceous carcinoma

Gene Alteration Subcellular localization Pathway
LRP1B G3156C, Q1125* Plasma membrane Receptor mediated endocytosis
CCND1 S41L Nucleus; cytosol Cyclin D1, cell cycle
TET2 P174H Nucleoplasm DNA demethylation
TP53 rearrangement, del exon 10-11 Nucleoplasm DNA repair
FANCA A816V, R685S Nucleus DNA repair
FGF6 A63T Extracellular Growth factor
MYST3 Q1681_Q1684del Nucleolus; cytosol Histone acetyltransferase (HAT)
KRAS G12C Cytosol MAPK signalling
RBM10 F173fs*7 Nucleus mRNA splicing
MET amplification Plasma membrane Receptor tyrosine kinase
FGFR3 I539del Endoplasmic reticulum Receptor tyrosine kinase
FLT4 K520E, R658W Nucleus; plasma membrane Receptor tyrosine kinase
ROS1 N692H Vesicles Receptor tyrosine kinase
TERT -124C>T Nucleoplasm Telomerase
WT1 R471S Nucleoplasm WT1 Transcription Factor
MYC L435F Nucleoplasm MYC Transcription Factor
ZNF703 G406R Nucleus Transcriptional co-repressor
c11orf30 C1211S Nucleoplasm Trascriptional Repressor
FLCN R320Q Nucleus; cytosol Tumor suppressor
TNFAIP3 R706Q Cytosol Ubiquitination
  1. *denotes mutations causing a premature stop codon
  2. fs denotes the presence of a frameshift mutation