Table 2 Significantly enriched individual somatic mutations, as well as genes significantly affected by non-synonymous somatic mutations, observed in more than two MUTYH positive tumors.

From: Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures

Gene

Variant (context)

MUTYH positives

MUTYH negatives

p-value

SBS18/36 relative likelihood (MUTYH positives vs MUTYH negatives)

KRAS

c.34G>T p.G12C (CCA>A)

16/19 (84%)

127/5364 (2.4%)

2 × 10−23

62%

PIK3CA

c.1636C>A p.Q546K (GCA>A)

7/19 (37%)

36/5364 (0.7%)

6 × 10−11

83%

KRAS

Gene-wide

17/19 (89%)

2025/5364 (38%)

5 × 10−6

58% vs 17%

AMER1

Gene-wide

9/19 (47%)

592/5364 (11%)

8 × 10−5

35% vs 12%

PIK3CA

Gene-wide

10/19 (53%)

934/5364 (17%)

5 × 10−4

60% vs 12%

ROBO2

Gene-wide

3/19 (16%)

55/5364 (1.0%)

1 × 10−3

42% vs 20%

TAF1L

Gene-wide

5/19 (26%)

420/5364 (8%)

0.01

36% vs 13%

SMAD4

Gene-wide

6/19 (32%)

638/5364 (12%)

0.02

36% vs 13%

SMAD2

Gene-wide

4/19 (21%)

308/5364 (6%)

0.02

53% vs 13%

APC

Gene-wide

17/19 (89%)

3468/5364 (65%)

0.03

45% vs 18%

ERBB3

Gene-wide

4/19 (21%)

388/5352 (7%)

0.045

47% vs 13%

  1. Somatic mutations observed in the significantly enriched genes in MUTYH positives were more often associated with the trinucleotide contexts related to the SBS18/36 tumor mutational signatures (TMS) as measured by the SBS18/36 relative likelihood. P-values were calculated with Fisher’s exact test (two-sided).