Table 1. Mutations of TERT in Esophageal Cancers among 143 Cases.
Esophageal CA | Healthy controls (21) | Aplastic anemia (21) | Bone marrow failure (22) | |||
Adenocarcinoma | Squamous cell carcinoma | Dyskeratosis congenita | ||||
Total | 117 | 26 | 528 | 200 | 80 | |
A279T† | Homozygous | 2 | 0 | 0 | 0 | 1 |
Heterozygous | 6 | 3 | 10 | 6 | 5 | |
mAF* | 4.27% | 5.77% | 0.90% | 1.50% | 4.37% | |
p value** | <0.01 | <0.05 | NS*** | |||
A1062T‡ | Homozygous | 0 | 0 | 0 | ||
Heterozygous | 3 | 1 | 7 | |||
mAF* | 1.28% | 1.92% | 0.66% | |||
p value** | NS*** |
codon 279 GCC/ACC (Ala/Thr).
codon 1062 GCC/ACC (Ala/Thr)].
*mAF (minor allele frequency): frequency of the less frequent allele in a given population.
**p value: compared to both esophageal cancers combined. Fisher's exact test.
***NS: not significant.