Table 3.
Pattern of TERT promoter mutations in conjunctival neoplasia and conjunctiva control tissues
TERT mutationsa | Effectb | CIN3 + SCC | CIN1 + CIN2 | Control conjunctiva |
---|---|---|---|---|
N = 41 (%) | N = 31 (%) | N = 53 (%) | ||
− 101G>A | SPI1 | 3 (7.3) | 1 (3.2) | 0 (0.0) |
− 124G>Ac | ETS | 2 (4.9) | 2 (6.5) | 0 (0.0) |
− 124_125GG>AAd | ELK1 | 4 (9.8) | 1 (3.2) | 1 (1.9) |
− 138_139GG>AAe | ETS | 3 (7.3) | 2 (6.5) | 0 (0.0) |
− 146G>Af | ETS | 2 (4.9) | 3 (9.7) | 0 (0.0) |
All mutationsg | 14 (34.1) | 9 (29.0) | 1 (1.9) |
aPositions refer to the distance from the ATG start site of TERT gene
bPutative transcription factors binding sites identified in JASPAR database (http://jaspar.genereg.net)
cOne sample carried an additional mutation at nt − 101G>A and another at nt − 122G>A (no effect on putative binding sites)
dOne sample carried an additional mutation at nt − 102G>A (no effect on putative binding sites)
eOne sample carried two additional mutations at nt − 101G>A and nt − 125G>T with no effect on putative binding sites
fOne sample carried two additional mutations at nt − 100G>A (no effect on putative binding sites) and nt − 149G>A (creating a putative ETS binding site)
gΧ2 for trend = 16.13, P = 0.00006