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

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660 # 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 52 NI NI Yes HHH202, NF1, EW206, EW207 Intragenic NF1 22 NI NI Yes HHH202 Intragenic NF1 8 NI NI Yes EW206, EW207 Intragenic NF1 2 NI NI Yes p144D6, pYNZ22.1, pYNH37.3, EW503 3 NI NI Yes EW503, EW301 (B), EW301 (T) 4 NI NI Yes p144D6, pYNZ22.1, pYNH37.3, EW503, EW301 (T), pHHH202, EW207 (B), pTHH59 5 NI NI Yes p144D6, pYNZ22.1, pYNH37.3, EW503, EW301 (B), EW301 (T), pHHH202, EW207 (B) NF1 region and some 17p Intragenic NF1 Whole chromosome Whole chromosome 10 NI NI Yes p144D6, pYNZ22.1, NF1 region and some 17p 88-3/14 NI NI Yes D17S30, TP53, D17S71, D17S8, D17S57 Whole chromosome Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH G-banded chromosome 17 duplication Probable mechanism Genomic deletion Genomic deletion Genomic deletion Genomic deletion Genomic deletion Genomic deletion Genomic deletion Genomic deletion Genomic duplication No. samples with LOH 5/6 20 3/9 21 Reference Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 661 Table S1. Continued Patient Germline mutation ID Type of germline mutation LOH LOH markers Predicted extent of LOH 88-8 NI NI Yes D17S30, D17S71 NF1 NIA 88-18 NI NI Yes D17S30, D17S71, D17S21, D17S33, EVI2B, D17S82 1 NI NI Yes DI7S5, DI7SI, DI7SI37, CRYBI, NF1, DI7S146 Whole chromosome NF1 and flanking regions 4 NI NI Yes DI7S34, DI7S5, DI7S146 NF1 and flanking regions Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH Probable mechanism No. samples with LOH NIA 2/5 22 1 NI NI Yes NF1 Genomic deletion 1 NI NI Yes NF1 alu, TP53 BHP53 Whole chromosome 7 NI NI Yes CRYB1, NF1 alu, TP53 BHP53 8 NI NI Yes D17S4, D17S74, NF1 e.31, NF1 alu 441T NI NI Yes TP53(INTRON6), D17S1863, D17twbch=S33, NF- IVSAC28.4(i27b), NF-Evi-20, NF-IVS38TG53.0, D17S1800, D17S73, D17S1301 Whole chromosome NF1 Whole chromosome 1/1 23 NIA 3/7 24 NIA 3/5 9 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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