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

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662 # 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 396T4 NI NI Yes NF-IVSAC28.4(i27b, NF-IVS38TG53.0, D17S57, D17S250, D17S1301 NF1 and 3 0 flanking region 2 NI NI Yes NF1, P16, TP53 Whole chromosome 5a NI NI Yes NF1, P16, TP53 Whole chromosome 5b NI NI Yes NF1, P16, TP53 Whole chromosome 6a NI NI Yes NF1, P16, TP53 Whole chromosome 6b NI NI Yes NF1, P16, TP53 Whole chromosome Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH 2 NI NI Yes Total gene deletion NF1 MLPA/CGH array 5 NI NI Yes Total gene deletion NF1 MLPA/CGH array 24 NI NI Yes EVI20, IVS27, IVS38 Intragenic NF1 Probable mechanism No. samples with LOH NIA 5/8 13 MLPA/CGH array 26 NI NI Yes NF1 gene deletion NF1 MLPA/CGH array Genomic deletion Genomic deletion Genomic deletion Genomic deletion 48 NI NI Yes Determined by MLPA NF1 MLPA Genomic deletion 86 NI NI Yes Determined by MLPA NF1 MLPA Genomic deletion 31/34 17 6/25 18 Reference Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 663 Table S1. Continued Patient Germline mutation ID ACs T65.1 Ex24: c.4267A . G; p.Lys1423Glu Type of germline mutation LOH LOH markers Predicted extent of LOH Missense Yes NS NF1 3 0 flanking region 57 NI NI Yes EW206 Intragenic NF1 58 NI NI Yes D17S1849, D17S1863, D17S1880 NF1 and 3 0 flanking region 76 NI NI Yes D17S1863, D17S1880 NF1 and 3 0 flanking region 182 NI NI Yes IVS27TG24.8 Intragenic NF1 185 NI NI Yes IVS27AC28.4, IVS38GT53, D17S804 187 NI NI Yes IVS27AC28.4, IVS38GT53, D17S796 NF1 region and some 17p NF1 region and some 17p 309 NI NI Yes IVS38GT53, D17S796 NF1 region and some 17p 330 NI NI Yes IVS27AC28.4, IVS38GT53, D17S520, D17S796, D17S804 NF1 region and some 17p Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH Probable mechanism No. samples with LOH NIA 1/1 25 NIA 1/1 19 NIA 2/4 26 NIA 11/12 27 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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