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

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646 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 Table S1. Continued Patient Germline mutation ID p027 p052 Ex33: c.6226delG; p.Ala2076GlnfsX13 Ex37: c.6791_6792dupA; p.Tyr2264X T23.6 Ex41: c.7268_7269delCA; p.Thr2423SerfsX2 T100 Ex41: c.7267dupA; p.Thr2426X T164.1 Ex41: c.7285 C . T; p.Arg2429X Type of germline mutation 1bp deletion (FS) 1bp duplication (FS) 2bp deletion (FS) 1bp duplication (FS) LOH LOH markers Predicted extent of LOH LOH (1 sample) LOH (1 sample) Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH Deletion (0 samples) Deletion (1 sample) Probable mechanism No. samples with LOH Reference Unpublished data, Cardiff Yes EVI20, I38, I41, C3 NIA Unpublished data, Cardiff Yes I38 to 3 0 UTR Unpublished data, Cardiff Nonsense LOH Unpublished data, Cardiff MAR2N NI NI Yes NF1, D17S1800 NF1 and 3 0 MOPT2N NI NI Yes D17S1824, D17S1294, D171863, NF1, D17S1800, D17S1880 NGL1N NI NI Yes D17S841, D17S1294, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S802, D17S784, D17S928 JRR2N NI NI Yes D17S1294, D17S1863, NF1, D17S1800, D17S1880, D17S798, D17S250, D17S787 flanking region NF1 and flanking regions Majority of 17q Majority of 17q NIA 32/126 5, 6, 7 Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 647 Table S1. Continued Patient Germline mutation ID Type of germline mutation LOH LOH markers Predicted extent of LOH SLC1N NI NI Yes D17S33, DS17S1824, D17S841, D17S1294, NF1, D17S1880, D17S798, D17S250, D17S784, D17S928 Majority of 17q Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH Probable mechanism No. samples with LOH Reference HT1377.1 NI NI Yes Unpublished data, Cardiff HT1377.2 NI NI Yes NIA T109.4 NI NI Yes I38, I41, 206 3 0 region T167.c NI NI Yes IVS27, IVS38, 3 0 NF1 T192.1 NI NI Yes 202, IVS12, J1J2, IVS27 T197 NI NI Yes J1J2 T227.2 NI NI Yes IVS12, J1J2 T230.2 NI NI Yes 202, IVS12, IVS27 T232.2 NI NI Yes J1J2 T241 NI NI Yes J1J2 NF253_32 NI NI Yes rs1018190, rs9891455, rs8074061 NF1 Array CGH Mitotic recombination 6/28 2 T224.1 NI NI LOH NIA Unpublished data, Cardiff T162 NI NI LOH T172 NI NI LOH T179.1 NI NI LOH Continued Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis REVIEW
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