Mutations identified in tumour specimen from 21 patients
| First tumour | Second tumour | |||||
|---|---|---|---|---|---|---|
| Patient | Location | Sequence change* | LOH | Mutation† | LOH | Conclusion [ref] |
| *Nucleotide positions are numbered according to the cDNA sequence with the first nucleotide of the ATG initiation codon as 1. Positions for introns are according to the genomic sequence numbered from the closest exonic position. | ||||||
| †NA - no second tumour available. | ||||||
| ‡Both tumours showed unusual pattern of LOH. | ||||||
| Conclusion of mutations is followed by reference number if previously reported. | ||||||
| 29276 | Exon 1 | 67insA (FS) | No | Detected | Yes | Constitutional for 67insA |
| 28350 | Exon 2 | 169C>T (NS) | Yes | Detected | Yes | Constitutional for 169C>T |
| 143 | Exon 3 | 352-354del3bp (in frame deletion) | No | Detected | No | Constitutional for 352-354del3bp |
| 13 | Exon 6 | 586C>T (NS) | Yes | Detected | Yes | Consitutional for 586 C>T [13] |
| 24405 | Exon 6 | 586C>T (NS) | No | Detected | No | Constitutional for 586C>T |
| 28165 | Exon 6 | 586C>T (NS) | Yes | Detected | Yes | Constitutional for 586C>T |
| 74 | Exon 6 | 586C>T (NS) | Yes | Detected | Yes | Consitutional for 586C>T [26] |
| 17907 | Exon 11 | 1021C>T (NS) | Yes‡ | Detected | Yes‡ | Constitutional for either 1021C>T or NF2 deletion |
| 28349 | Exon 13 | 1396C>T (NS) | Yes | Detected | Yes | Constitutional for 1396C>T |
| 28364 | Exon 13 | 1396C>T (NS) | Yes | Exon 11: 1009 C>T (NS) | Yes | Tumour specific for both mutations; likely constitutional for NF2 deletion |
| 27255 | Intron 12 | IVS12+1G>A (SP) | No | Not detected | Yes | Tumour specific for IVS12+1G>A |
| 28999 | Exon 13 | 1396C>T (NS) | No | Not detected | Yes | Tumour specific for 1396C>T |
| 191.3 | Intron 14 | IVS14+2T>C (SP) | No | Not detected | Yes | Tumour specific for IVS14+2T>C |
| 72 | Exon 2 | 169C>T (NS) | Yes | NA | – | Likely constitutional for 169C>T or NF2 deletion [25] |
| 358 | Exon 2 | 193C>T (NS) | Yes | NA | – | Likely constitutional for 193C>T or NF2 deletion [25] |
| 28967 | Exon 3 | 260del25bp (FS) | Yes | NA | – | Likely constitutional for 260del25bp or NF2 deletion |
| 608 | Exon 3 | 293-294delC (FS) | Yes | NA | – | Likely constitutional for 293-294delC or NF2 deletion |
| 25974 | Exon 4 | 439C>T (NS) | Yes | NA | – | Likely constitutional for 439C>T or NF2 deletion |
| 128 | Intron 7 | IVS7-33del30bp | Yes | NA | – | Likely constitional for IVS7-33del30bp or NF2 deletion |
| 13772 | Exon 9 | 844delG (FS) | No | NA | – | Inconclusive (27) |
| 28889 | Exon 12 | 1199del2bp (FS) | No | NA | – | Inconclusive for 1199del12bp |