Table 1.
Mutations in cervical carcinoma and CIN2/3 as assessed by TSACP‐MiSeq‐NGS
| Mutation | CIN2/3 (n = 23) n (VAF) | SCC (n = 25) n (VAF) | AdCA (n = 10) n (VAF) | ||
|---|---|---|---|---|---|
| Gene | CDS change | Amino acid change | |||
| PIK3CA | c.1624G>A | p.E542K | 1 (0.05) | 2 (0.13, 0.61) | 0 |
| c.1633G>A | p.E545K | 0 | 4 (0.091, 0.14, 0.23, 0.322) | 0 | |
| c.1633G>C | p.E545Q | 0 | 0 | 1 (0.63) | |
| FBXW7 | c.1273C>G | p.R425G | 0 | 2 (0.141, 0.16) | 0 |
| PTEN | c.65A>G | p.D22G | 0 | 1 (0.39) | 0 |
| c.724G>T | p.E242* | 0 | 0 | 1 (0.713) | |
| APC | c.3400G>C | p.D1134H | 0 | 1 (0.30) | 0 |
| STK11 | c.597G>C | p.E199D | 0 | 1 (0.23) | 0 |
| AKT1 | c.82C>G | p.L28V | 0 | 1 (0.11) | 0 |
| RB1 | IVS3‐1G>C | Acceptor splice site | 0 | 1 (0.57) | 0 |
| TP53 | c.586C>T | p.R196* | 0 | 1 (0.062) | 0 |
| NRAS | c.182A>G | p.Q61R | 0 | 0 | 1 (0.30) |
| GNA11 | c.972C>G | p.I324M | 0 | 0 | 1 (0.15) |
| ATM | c.7322T>G | p.V2441G | 0 | 0 | 1 (0.503) |
AdCA, adenocarcinoma; CDS, coding DNA sequence; CIN, cervical intraepithelial neoplasia; SCC, squamous cell carcinoma; TSACP‐MiSeq‐NGS, TruSeq Amplicon Cancer Panel‐based Next Generation Sequencing on the MiSeq Personal Sequencer; VAF, variant allele frequency depicted for each mutated specimen separately.
1,2,3 Co‐occurrence of mutations (number indicating the combination).