Table 2

Mutations identified in tumour specimen from 21 patients

First tumourSecond tumour
PatientLocationSequence change*LOHMutation†LOHConclusion [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.
29276Exon 167insA (FS)NoDetectedYesConstitutional for 67insA
28350Exon 2169C>T (NS)YesDetectedYesConstitutional for 169C>T
143Exon 3352-354del3bp (in frame deletion)NoDetectedNoConstitutional for 352-354del3bp
13Exon 6586C>T (NS)YesDetectedYesConsitutional for 586 C>T [13]
24405Exon 6586C>T (NS)NoDetectedNoConstitutional for 586C>T
28165Exon 6586C>T (NS)YesDetectedYesConstitutional for 586C>T
74Exon 6586C>T (NS)YesDetectedYesConsitutional for 586C>T [26]
17907Exon 111021C>T (NS)Yes‡DetectedYes‡Constitutional for either 1021C>T or NF2 deletion
28349Exon 131396C>T (NS)YesDetectedYesConstitutional for 1396C>T
28364Exon 131396C>T (NS)YesExon 11: 1009 C>T (NS)YesTumour specific for both mutations; likely constitutional for NF2 deletion
27255Intron 12IVS12+1G>A (SP)NoNot detectedYesTumour specific for IVS12+1G>A
28999Exon 131396C>T (NS)NoNot detectedYesTumour specific for 1396C>T
191.3Intron 14IVS14+2T>C (SP)NoNot detectedYesTumour specific for IVS14+2T>C
72Exon 2169C>T (NS)YesNALikely constitutional for 169C>T or NF2 deletion [25]
358Exon 2193C>T (NS)YesNALikely constitutional for 193C>T or NF2 deletion [25]
28967Exon 3260del25bp (FS)YesNALikely constitutional for 260del25bp or NF2 deletion
608Exon 3293-294delC (FS)YesNALikely constitutional for 293-294delC or NF2 deletion
25974Exon 4439C>T (NS)YesNALikely constitutional for 439C>T or NF2 deletion
128Intron 7IVS7-33del30bpYesNALikely constitional for IVS7-33del30bp or NF2 deletion
13772Exon 9844delG (FS)NoNAInconclusive (27)
28889Exon 121199del2bp (FS)NoNAInconclusive for 1199del12bp