Table 2. Percentile ranking of Spearman correlation among 1,082 genes.
Gene mutation | MSI-H | Distant-Mets |
Gene mutation |
Gene signature |
||||
---|---|---|---|---|---|---|---|---|
APC | TP53 | KRAS | BRAF | EMT | RAS | |||
APC | 0.1 | 99.6 | — | 100 | 100 | 0.1 | 23 | 0.2 |
TP53 | 0.2 | 99.4 | 99.9 | — | 6 | 0.4 | 74 | 0.1 |
KRAS | 0.3 | 100 | 100 | 18 | — | 0.2 | 2 | 100 |
SMAD4 | 4 | 95 | 84 | 85 | 93 | 52 | 13 | 89 |
TCF7L2 | 22 | 58 | 98 | 67 | 70 | 8 | 49 | 29 |
FAM123B | 36 | 13 | 97 | 31 | 97 | 22 | 71 | 80 |
GNAS | 49 | 69 | 60 | 67 | 86 | 71 | 28 | 98 |
ADAMTS18 | 51 | 51 | 40 | 56 | 69 | 50 | 38 | 56 |
LRP1B | 66 | 81 | 45 | 91 | 38 | 80 | 55 | 58 |
PIK3CA | 67 | 28 | 85 | 7 | 98 | 32 | 1.4 | 51 |
TAF1L | 81 | 48 | 39 | 80 | 21 | 93 | 24 | 84 |
FBXW7 | 86 | 12 | 63 | 56 | 38 | 78 | 41 | 54 |
SYNE1 | 93 | 21 | 4 | 30 | 50 | 95 | 24 | 99 |
CSMD3 | 93 | 34 | 7 | 48 | 62 | 99 | 6 | 99.4 |
CBX4 | 95 | 7 | 3 | 43 | 2 | 98 | 56 | 50 |
ITGB4 | 99.9 | 17 | 0.8 | 11 | 46 | 99.6 | 43 | 99.7 |
BRAF | 100 | 3 | 0.1 | 16 | 0.1 | — | 37 | 99.9 |
Only genes with Z5 non-silent mutations were analysed. APC, Adenomatous polyposis coli; EMT, epithelial–mesenchymal transition; Mets, metastasis; MSI, microsatellite instability.
(1) Closer examination of the literature and our own data suggest that only the BRAF(V600E) (comprising 53/60 patients with BRAF mutations) and APC-truncating mutations (stopgains or frameshift mutations, as these mutations clearly inactivate downstream β-catenin-binding sites) should be considered as clearly functional for these two genes; hereafter, we include only BRAF(V600E) and APC-truncating mutations in the further analysis and simply refer to these specific mutations as BRAF and APC mutations.
(2) MSI-H is a binary variable for the MSI-H status.
(4) Percentiles ≤5 or ⩾95 are shown in bold.