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Table 2 Results of target enrichment sequencing

From: PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study

    

Recurrence

Non-recurrence

 

Gene symbol

Exonic function

Nucleotide change

Aa change

RefSeq (n)

AltSeq (n)

RefSeq (n)

AltSeq (n)

p-value

PINK1

non-synonymous SNV

NM_032409:c.1018G > A

p.A340T

21 (80.8)

5 (19.2)

27 (47.4)

30 (52.6)

0.0045

PINK1

non-synonymous SNV

NM_032409:c.1562A > C

p.N521T

19 (70.4)

8 (29.6)

22 (38.6)

35 (61.4)

0.0098

KRAS

synonymous SNV

NM_001369787:c.519 T > C

p.D173D

16 (59.3)

11 (40.7)

47 (82.5)

10 (17.5)

0.0311

DEPTOR

synonymous SNV

NM_022783:c.135C > T

p.H45H

24 (88.9)

3 (11.1)

57 (100)

0 (0)

0.0307

OPTN

synonymous SNV

NM_021980:c.102G > A

p.T34T

14 (51.9)

13 (48.1)

44 (77.2)

13 (22.8)

0.0245

  1. Percentage in parentheses
  2. Eighty-four patients were included in the analysis; Fisher’s exact test of 560 SNVs or INDELs showed 5 SNVs with p < 0.05
  3. Aa change amino acid change, RefSeq allele in the reference genome, AltSeq Alt, any other allele found at that locus