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Table 3 Hotspot mutations in colorectal cancer cases

From: A novel NGS-based microsatellite instability (MSI) status classifier with 9 loci for colorectal cancer patients

Gene

Hotspot

Number of variant cases

Total

MSI-H

MSS

KRAS

p.G12V/S/D/A

16

3

13

p.G13D

7

5

2

p.Q61H

2

0

2

p.A146T

4

3

1

NRAS

p.Q61R/H/L

3

0

3

BRAF

p.V600E

4

4

0

TCF7L2

p.E384fs

10

10

0

RNF43

p.G659fs

7

7

0

TGFBR2

p.E125fs

6

6

0

QKI

p.K132fs

4

4

0

CARD11

p.R555fs

3

3

0

BCORL1

p.S1679fs

3

3

0

JAK3

p.Q39fs

2

2

0

BCOR

p.Q1156fs

2

2

0

  1. p.G12V/S/D/A, p.G13D and p.A146T of KRAS were found in both MSI-H and MSS cases, while BRAF p.V600E was only found in 4 MSI-H cases. p.E384fs of TCF7L2 were highly mutated in MSI-H samples
  2. fs fragment shift