Table II.
Next-generation sequencing data for phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA), ataxia-telangiectasia mutated (ATM), proto-oncogene B-Raf (BRAF), mitogen-activated protein kinase kinase 1 (MAP2K1/MEK1), myeloproliferative leukemia (MPL) virus oncogene and neurofibromin 1 (NF1) mutations in colorectal cancer (CRC) tumors from African Americans (AA) and Caucasians (CC) patients. Each variant is characterized by specific amino acid substitution at a given protein position, the specific DNA exon region, its pathogenicity, and the actual number of patients represented in each cohort (n). Standard one letter codes are used to indicate mutation-induced changes in amino acids. The most frequent mutations of PIK3CA are shown in bold.
| Gene/variant | Exon | Function | AA (n) | CC (n) | p-Value |
|---|---|---|---|---|---|
| PIK3CA | |||||
| Total assayed | 118 | 243 | 0.024* | ||
| R88Q | 1 | P | 0 | 2 | |
| E109del | 1 | PP | 1 | 1 | |
| N345K | 4 | PP | 0 | 3 | |
| E542K | 9 | P | 10 | 6 | |
| E545A | 9 | P | 0 | 1 | |
| E545G | 9 | P | 1 | 0 | |
| E545K | 9 | P | 6 | 4 | |
| Q546K | 9 | P | 1 | 0 | |
| Q546R | 9 | P | 0 | 1 | |
| Y1021C | 20 | PP | 1 | 0 | |
| M1043I | 20 | P | 1 | 0 | |
| G1049R | 20 | P | 1 | 1 | |
| H1047L | 20 | P | 2 | 1 | |
| H1047R | 20 | P | 2 | 2 | |
| ATM | |||||
| Total assayed | 116 | 241 | 0.047‡ | ||
| S49C | 3 | PP | 0 | 4 | |
| R337H | 8 | PP | 0 | 1 | |
| E632X | 12 | P | 0 | 1 | |
| L1238fs | 25 | P | 0 | 1 | |
| Y1241X | 25 | P | 0 | 1 | |
| L1449X | 29 | P | 0 | 1 | |
| F1774fs | 35 | P | 0 | 1 | |
| Q2108X | 43 | P | 0 | 1 | |
| R2443X | 50 | P | 0 | 1 | |
| W2638X | 53 | P | 2 | 1 | |
| F2799fs | 57 | P | 0 | 1 | |
| R3008C | 63 | PP | 0 | 2 | |
| R3008H | 63 | P | 0 | 1 | |
| BRAF | |||||
| Total assayed | 115 | 247 | 0.022‡ | ||
| G464V | 11 | P | 0 | 1 | |
| G466V | 11 | P | 0 | 1 | |
| D594G | 15 | PP | 2 | 0 | |
| D594N | 15 | PP | 0 | 1 | |
| L597V | 15 | PP | 0 | 1 | |
| V600 K601delinsE | 15 | PP | 0 | 1 | |
| V600E | 15 | P | 2 | 21 | |
| MAP2K1/MEK1 | |||||
| Total assayed | 78 | 169 | 0.035‡ | ||
| D67N | 2 | PP | 1 | 0 | |
| K57N | 2 | PP | 1 | 0 | |
| MPL | |||||
| Total assayed | 115 | 244 | 0.039‡ | ||
| Y252H | 5 | PP | 2 | 0 | |
| NF1 | |||||
| Total assayed | 78 | 169 | 0.037‡ | ||
| R440X | 12 | P | 1 | 0 | |
| R1769X | 38 | P | 1 | 0 | |
| c.6819+1G>A | 45 | P | 1 | 0 |
C.6819+1G>A, splice variant showing the nucleotide change position; Del, deletion; Delins, double-deletion; Fs, frameshift; P, pathogenic; PP, presumed pathogenic; X, stop codon.
Bonferroni and Benjamini-Hochberg correction
chi-square test.