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Table 1 Tumor-specific mutation analysis of 10 melanoma tumor specimens

From: Circulating tumor DNA analysis as a real-time method for monitoring tumor burden in melanoma patients undergoing treatment with immune checkpoint blockade

IDa BRAF cKIT NRAS Other Therapy Radiographic response ctDNA level analyzed?
01 WT WT WT Chr5: 1,295,228-9 ipilimumab Immune-related PR Y
GG > AA (TERT) b
03 1799T > A WT NT NT BMS-936559 PD Y
05 WT WT WT NT ipilimumab PD N
06 WT WT WT NT BMS-936559 PD N
07 WT WT WT NT ipilimumab PD N
08 WT WT 182A > G NT BMS-936559 PD Y
09 WT WT WT NT BMS-936559 PD N
10 WT WT 181C > A NT ipilimumab PD Y
11 WT WT WT Chr2: 29,551,215 ipilimumab CR N
C > T (ALK) b
12 WT WT NTc NT ipilimumab PD N
  1. Archived formalin-fixed, paraffin-embedded tumor specimens were analyzed for common, recurrent somatic sequence mutations in BRAF, cKIT, NRAS and TERT[19] using standardized pyrosequencing, melting curve analysis, or Sanger sequencing techniques, as previously described (Wood et. al., Science. 2007 Nov 16;318(5853):1108-13. and Parsons et. al., Science. 2008 Sep 26;321(5897):1807-12.). No mutation was detected in 5 of 10 patients. Previously reported mutations associated with melanoma (BRAF, NRAS, TERT) were found in 4 patients. For one subject (#11) whose tumor was found to be wild type for each of the above genes, whole exome sequencing analysis of tumor and normal samples was employed to identify tumor-specific (somatic) sequence and copy number alterations. (WT, wild type; NT, not tested; PR, partial response; PD, progressive disease; CR, complete response; apatient ID numbers are not sequential as 2 patients who died due to disease progression prior to completing their courses of therapy are not included in Table 1; bgenomic position, hg19; cNo PCR amplified product was obtained after repeated attempts).