Table 3.
Summary frequent mutations in EAC discovered by NGS
| Gene/gene complex | Mutation rate | Type of mutation (absolute amount) |
Reference(s) | |||
|---|---|---|---|---|---|---|
| Nonsense | Indel | Missense | Splice site | |||
| APC | 16.7% | 1 | 1 | 0 | 0 | Agrawal et al40 |
| ARID1A | 16.7% | 2 | 0 | 0 | 0 | Agrawal et al40, this paper |
| BRSK1 | 16.7% | 0 | 1 | 1 | 0 | Agrawal et al40 |
| FBN3 | 16.7% | 1 | 0 | 1 | 0 | Agrawal et al40 |
| MUC16 | 16.7% | 1 | 0 | 1 | 0 | Agrawal et al40 |
| HMCN1 | 25.0% | 0 | 0 | 3 | 0 | Agrawal et al40 |
| HTR1A | 25.0% | 0 | 0 | 3 | 0 | Agrawal et al40 |
| ANK2 | 25.0% | 0 | 0 | 2 | 1 | Agrawal et al40 |
| SYNE1 | 33.3% | 0 | 0 | 4 | 0 | Agrawal et al40, this paper |
| KIF2B/CLASP1 | 41.7% | 0 | 0 | 5a | 0 | Agrawal et al40, this paper |
| TP53 | 75.0% | 2 | 1 | 3 | 3 | Agrawal et al40, this paper |
An overview of prevalent mutations in EAC identified using NGS by Agrawal et al40 and our group. In total, 12 EAC and matched NSE tissue samples were utilized for NGS. Genes in which nonsense and indel mutations were detected in at least 2/12 (16.7%) patients as well as genes in which missense or splice site mutations occurred in >3 cases (25%) are listed in this table. Abbreviations: ARID1A, AT-rich interactive domain 1A (SWI like); EAC, esophageal adenocarcinoma; NGS, next-generation sequencing; NSE, normal squamous epithelium of the esophagus.
a
CLASP1 mutation was found in only one patient.