Neurofibromatosis type 1-associated tumours ... - Human Genomics

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656 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 Table S1. Continued Patient Germline mutation ID Type of germline mutation LOH LOH markers Predicted extent of LOH 337-5 NI NI Yes D17S1307, D17S2237, IVS27TG24.8, D17S1166, D17S1800 390 NI NI Yes IVS27TG24.8, IVS27TG28.4, D17S1166, D17S1800 49 NI NI Yes HHH202, E5, I12b, EVI20, 3 0 NF1-1, C71/2, EW206 Spinal neurofibromas 1 Ex7: c.899T . C; p.Leu300Pro 7 Ex9: c.1186-13delT (Pathogenicity?) Missense Yes EVI20, IVS38 Intragenic NF1 1bp deletion (FS) Yes IVS27, IVS38 Intragenic NF1 3 Ex16: c.2410-2A .T Splice site Yes IVS27 Intragenic NF1 11.1 Ex22: c.3827G . A; p.Arg1276Glu Missense Yes IVS38 Intragenic NF1 11.2 Yes Deletion of exons 13 . 16 2 Ex23.2: c.4066G . A; p.Glu1356Lys 10 Ex29: c.5242C . T; p.Arg1748X Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH Probable mechanism NF1 MLPA Genomic deletion NF1 MLPA Genomic deletion No. samples with LOH NF1 MLPA Inconclusive 20/29 10 Intragenic NF1 MLPA MLPA MLPA MLPA MLPA Mitotic recombination Mitotic recombination Mitotic recombination Mitotic recombination Deletion Missense Yes 27, 3 0 NF1 NF1 MLPA Mitotic recombination Nonsense Yes I12B, Alu1, J1J2 and EVI20 Intragenic NF1 MLPA Mitotic recombination 8/22 16 Reference Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 657 Table S1. Continued Patient Germline mutation ID MPNSTs Type of germline mutation T196.20 Deletion exons 2 and 3 Two exon deletion LOH LOH markers Predicted extent of LOH Yes I12b, IVS27AC28.4, EVI20(IVS27B), IVS38GT53.0 (IVS38), 3 0 -NF1, C7/CT1/2 (3 0 -UTR), EW206 (3 0 extragenic), EW207 (3 0 extragenic), D17S798 T196.24 Yes NF1 exon 5, I12b, IVS27AC28.4, EVI20(IVS27B), IVS38GT53.0 (IVS38), 3 0 -NF1, C7/CT1/2 (3 0 -UTR), EW206 (3 0 extragenic), EW207 (3 0 extragenic) 13 Deletion exons 2 and 3 Two exon deletion Yes Ex5, I12b, IVS27, EVI20, IVS38,C7CT, EW206, EW207,3 0 NF1 7 Ex4c: c.654 þ 1G . T Splice site Yes UT172, HH202, J1/J2, EVI20 27 Ex8: c.1133_1136delACTG; p.Asp378AlafsX7 9 Ex11: c.1713G . A; p.Trp571X 4bp deletion (FS) NF1 and 3 0 flanking region NF1 and 3 0 flanking region NF1 and 3 0 flanking region NF1 Yes Ex5, J1J2,3 0 NF1 NF1 and 3 0 flanking region Nonsense Yes D17S182, I12b, J1/J2 Intragenic NF1 10 Yes UT172, HH202, J1/J2, EVI20, .2.2Mb NF1 Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH MLPA MLPA MLPA/CGH array MLPA/CGH array NIA MLPA / CGH array Probable mechanism Mitotic recombination Genomic deletion Genomic deletion Genomic deletion Genomic deletion No. samples with LOH 2/11 1 2/11 1 31/34 17 Reference Continued Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis REVIEW
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Neurofibromatosis type 1-associated tumours ... - Human Genomics

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