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Table 2 NGS to detect lesions in actionable genes

From: Next-generation sequencing: recent applications to the analysis of colorectal cancer

Samples

NGS platform

# of analyzed genes/assay

Mutant genes analyzed

Therapy

Ref.

320 mCRC

454 GS FLX

9 Targeted-seq (KRAS, NRAS, EGFR, BRAF, PTEN, PI3KCA, AKT, TP53, CTNNB1)

K/NRAS, BRAF, PI3KCA, TP53, PTEN, EGFR, AKT, CTNNB1

Panitumumab

Peeters et al. [75]

468 CRC (77 KRAS analyzed)

GAIIx Illumina

1321 Targeted-seq (SureSelect Agilent)

KRAS

Anti-EGFR

Kothari et al. [76]

182 mCRC KRAS ex2 wt

Ion Torrent

22 Targeted-seq (AmpliSeq colon and lung cancer panel)

KRAS (29/182pts) frequently mutant: TP53, RAS, PI3KCA, BRAF

Folfiri/Cetuximab

Ciardiello et al. [77]

91 CRC

Ion Torrent

22

KRAS, TP53, APC, FBXW7, PI3KCA, BRAF, CTNNB1, ERBB2, SMAD4

Anti-EGFR

Bai et al. [78]

188 mCRC

454 GS Junior

2 Targeted-seq (KRAS, NRAS)

KRAS, NRAS

Anti-EGFR

Harlé et al. [79]

1054 stage III CRC

Ion Torrent

22

KRAS, NRAS, BRAF

Folfox/cetuximab

Taieb et al. [80]

63 Iranian CRC

Ion Torrent

15 Targeted-seq (AMER1, APC, ARID1A, BRAF, FBXW7, KRAS, MSH3, MSH6, NRAS, PIK3CA, SMAD4, SOX9, TCF7L2, TGFBR2 and TP53)

MSH3, MSH6, AMER1, APC, BRAF, KRAS, PI3KCA, TGFBR2A, SMAD4, SOX9, TCF7L2, TP53

Suggested informed genetic diagnosis and personalized strategies

Ashktorab et al. [81]

Illumina

20 Targeted-seq (ACVR2A, AMER1, APC, ARID1A, BRAF, FBXW7, KRAS, MSH2, MSH3, MSH6, NRAS, PIK3CA, POLE, PTEN, SMAD2, SMAD4, SOX9, TCF7L2, TGFBR2 and TP53)

   

138 stage IV CRC

FoundationOne method

315 cancer related genes + introns of 28 frequently rearranged genes

RAS, RAF, ERBB2, AKT, PI3KCA, PTEN, MET, POLE

Anti-EGFR, anti-HER2, anti-PD1

Gong et al. [82]

7 CRC cell lines

25 CRC

Illumina

MiSeq

48 Targeted-seq (TruSeq Amplicon Cancer)

ATM, E-cadherin

Anti-EGFR

Geiβler et al. [83]

3 mCRC

positive for NTRK1 rearrangement

Illumina

MiSeq

5 gene rearrangements

(NTRK1/2/3, ROS, ALK)

NTRK1

Entrectinib

Lee et al. [84]

54 mCRCs + liver metastasis

KRAS ex2 wt

Ion Torrent

22

KRAS, NRAS, TP53, PI3KCA, FBXW7, PTEN

Anti-EGFR

Adua et al. [85]

53 KRAS ex2 WT mCRC

Ion Torrent

20 Targeted-seq (EGFR, KRAS, HRAS, NRAS, BRAF, PIK3CA, AKT1, PTEN, HER2, HER4, TP53)

KRAS, NRAS, BRAF

Anti-EGFR

Hsu et al. [86]