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Table 1 List of mutations identified in next-generation sequencing with potential treatments, adapted from the patient’s FoundationOne® report

From: Metastatic squamous cell carcinoma of the skin with clinical response to lapatinib

Mutation Description Potential treatmentsa
ERBB3 R135C Lapatinib, trastuzumab, afatinib, pertuzumab, ado-trastuzumab emtansine
NF2 Q400 Everolimus, temsirolimus, FAK inhibitors, lapatinib, trametinib
CDKN2A P16INK4a D84Y and p14ARF 98L Abemaciclib, ribociclib, palbociclib
CARD11 R888C NF-kB inhibitors
FAT1 C3738fs*12  
LRP1B G4199E  
RUNX1T1 R394W  
TERT promoter − 139_− 138 CC > TT  
TP53 R196*, R282W AZD1775, APR-246, SGT-53, CHK1 inhibitor with irinotecan, kevetrin
  1. In the FAT1 and TP53 mutations, the “*” denotes a mutation in a stop codon. In the FAT1 mutation, “fs” denotes a frameshift mutation. In the TERT promoter mutation, “−” denotes the affected nucleotide, “_” denotes the range of affected residues, and “>” denotes a substitution mutation
  2. a Not all listed treatments are FDA-approved and some are drawn from data found in preclinical and/or early clinical studies