Table 2.
The Findings of GNAQ, GNA11, EIF1AX, SF3B1, BAP1 and Chromosome Status in Primary Uveal Melanoma Tumor Tissue and Germline of Children and Young Adults
| Tumor | Germline | |
|---|---|---|
| Gene | n = 12 | n = 26 |
| GNAQ | 626A>T, p.(Gln209Leu); 626A>C, p.(Gln209Pro); c.548G>A, p. (Arg183Gln) | None |
| GNA11 | c.626A>T, p.(Gln209Leu); c.626A>C, p.(Gln209Pro) | None |
| EIF1AX | None | None |
| SF3B1 | c.1874G>A, p.(Arg625His) | None |
| BAP1 | c.122+1G>A; c.38-1G>C; c.442G>T, p.(Glu148*); c.467del, p.(Gln156Argfs*31); .254del, p.(Gln85Argfs*2); c.2023_2037del, p.(Ile675_Ile679del) | c.1708C>G, p.(Leu570fs*40) |
| Chromosome 3 | n = 18 | n = 32 |
| Disomy | 9 (50.0%) | 32 (100%) |
| Loss of heterozygosity | 6 (33.3%) | 0 (0%) |
| Monosomy | 3 (16.7%) | 0 (0%) |