Table 4 Frequency of detected variants by FDA level of supporting evidence (as of June 2017)
Tests with variants supported by level 1 evidence as the most actionable (n = 89) | |||
Gene | Tumor Type | Number of Detected Variants (n = 92) | Variants |
KRAS | Colorectal | 32 | Codon 12, 13, 61, 146 single nucleotide variants |
EGFR | Lung | 17 | L858R, T790 M, exon 19 deletions |
BRAF | Melanoma | 17 | V600E, V600K |
BRCA1 | Ovarian | 7 | Multiple single nucleotide variants & indels* |
BRAF | Lung | 5 | V600E |
ALK | Lung | 5 | ALK (EML4) fusion |
NRAS | Colorectal | 3 | Codon 12 & 61 single nucleotide variants |
BRCA2 | Ovarian | 3 | Multiple single nucleotide variants* |
ERBB2 | Breast | 2 | HER-2 amplification |
ROS1 | Lung | 1 | ROS1 (EZR) fusion |
Tests with variants supported by level 2 evidence as the most actionable (n = 100) | |||
Gene | Tumor Type | Number of Detected Variants (n = 109) | Detected Mutations |
KRAS | Lung | 71 | Codon 12, 13, 61, 146 single nucleotide variants & insertions |
EGFR | Lung | 9 | Atypical exon 19 indels, exon 20 insertions, G719C, S768I, L861Q |
MET | Lung | 7 | MET amplification and exon 14 skip |
NF1 | Sarcoma (GIST) | 5 | Multiple single nucleotide variants* |
KIT | Melanoma | 4 | Multiple exon 11 single nucleotide variants |
ERBB2 | Lung | 3 | E365K, Y742_A745dup |
KIT | Sarcoma (GIST) | 2 | Exon 9 and 11 single nucleotide variants |
BRAF | Colorectal | 2 | V600E |
RET | Thyroid | 1 | M918 T |
RET | Lung | 1 | RET (KIF5B) fusion |
KRAS | Colorectal | 1 | V14I |
NRAS | Colorectal | 1 | Q61R |
KIT | Sarcoma | 1 | V559D (exon 11) |
ALK | Sarcoma | 1 | ALK (TPM3) fusion |