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Table 1 Genetic variants detected via next-generation sequencing of pre-treatment and treatment-resistant tumor specimens

From: Secondary resistance to immunotherapy associated with β-catenin pathway activation or PTEN loss in metastatic melanoma

Baseline (pre-treatment) biopsyTreatment-resistant biopsy
Variants detected (NGS platform: OncoScreen ST2.0)Variants detected (NGS platform: OncoPlus)
Pathogenic variantsPathogenic variants
BRAF c.1799 T > A, p.V600EBRAF c.1799 T > A, p.V600E
CDKN2A lossCDKN2A loss
BRAF amplificationBRAF amplification
 PTEN loss
 Variants of indeterminate clinical significance
 APC c.385G > C, p.E129Q
 APC c.6211A > G, p.I2071V
 PTCH1 c.3641C > T, p.T1214 M
 RET c.2939 + 6C > T
 FANCA Loss
 H3F3A Loss
 NOTCH1 Loss
 PALB2 Loss Equivocal
 RAD51 Loss Equivocal
 RET Loss
 TSC1 Loss Equivocal
 TSC2 Loss Equivocal
  1. Abbreviations: NGS next-generation genomic sequencing, c. cDNA alteration, p., protein alteration
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