Table 2.
BAP1 mutations for the 17 cases with confirmed BAP1 loss. The BAP1 mutation (with respect to RefSeq transcript NM_004656.2) and the functional consequence.
| Case | BAP1 mutation | Type of mutation | BAP1 immunohistochemistry | Oncogene Mutation |
|---|---|---|---|---|
| 1 | c.58_59insTG | Frameshift | NA | BRAF V600E |
| 2 | c.509_510insT | Frameshfit | NA | BRAF V600E |
| 3 | c.3G>A | Startsite, predicted N-terminal truncation | NA | BRAF V600E |
| 4 | c.2057-2delA | Frameshift | NA | BRAF V600E |
| 5 | not performed | BAP1 nucleus negative, cytoplasm positive | BRAF V600E | |
| 6 | c.592G>T | Nonsense | NA | WT |
| 7 | not performed | BAP1 negative | WT | |
| 8 | c.1392delC | Frameshift | NA | BRAF V600E |
| 9 | c.2023_2024insATA | Amino Acid insertion | NA | BRAF V600E |
| 10 | not performed | BAP1 negative | BRAF V600E | |
| 11 | WT | BAP1 nucleus negative, cytoplasm positive | BRAF V600E | |
| 12 | not performed | BAP1 negative | WT | |
| 13 | c.1717delC | Frameshift | NA | BRAF V600E |
| 14 | c.506C>T | Missense | BAP1 negative | BRAF V600E |
| 15 | not performed | BAP1 negative | WT | |
| 16 | not performed | BAP1 nucleus negative, cytoplasm positive | BRAF V600E | |
| 17 | c.155G>A | Nonsense | NA | NRAS Q61R |