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

More documents

Recommendations

Info

666 # 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 2 NI NI Yes D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830 3 NI NI Yes D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830 4 NI NI Yes D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830 5 NI NI Yes D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822 6 NI NI Yes D17S1878, D17S33, D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830 Majority of 17q Majority of 17q Majority of 17q Majority of 17q Majority of 17q Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH FISH FISH FISH FISH FISH Probable mechanism Mitotic recombination– interstitial isodisomy (paternal) Mitotic recombination interstitial isodisomy (paternal) Mitotic recombination– interstitial isodisomy (maternal) Mitotic recombination– interstitial isodisomy (maternal) Mitotic recombination– interstitial isodisomy (maternal) No. samples with LOH Reference Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 667 Table S1. Continued Patient Germline mutation ID Type of germline mutation LOH LOH markers Predicted extent of LOH 7 NI NI Yes D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830, D17S928 8 NI NI Yes D17S1975, D17S1294, UT172, NF1, D17S1800, D17S250, D17S801, D17S939, D17S836, D17S1806, D17S1822, D17S1830, D17S928 Majority of 17q Majority of 17q 9 NI NI Yes NF1, D17S1800 Intragenic NF1 10 NI NI Yes NF1, D17S1800 Intragenic NF1 D419 NI NI Yes D17S925, D17S1841, D17S1294, D17S1863, D17S1849, D17S1166, D17S1800, D17S1880, D17S1818, D17S855, D17S1827, D17S787, D17S948, D17S785, D17S784 Majority of 17q Evidence for genomic deletion? MLPA/CGH arrayCGH/ FISH FISH FISH FISH FISH MLPA Probable mechanism Mitotic recombination– interstitial isodisomy (maternal) Mitotic recombination– interstitial isodisomy (paternal) Genomic deletion Genomic deletion Mitotic recombination– UPD No. samples with LOH 5/10 33 Reference Continued Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis REVIEW
Page 1 and 2: REVIEW Neurofibromatosis type 1-ass
Page 3 and 4: Neurofibromatosis type 1-associated
Page 15 and 16: # HENRY STEWART PUBLICATIONS 1479-7
Page 43: # HENRY STEWART PUBLICATIONS 1479-7

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

Create successful ePaper yourself

Delete template?

Save as template?