Noureddine Boukhatem

Constitutional Oncogenetics


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/ 66 98 184 MAX / 5 5 TMEM127 / 2 6 EPAS1 / 2 0 Familial pituitary adenomas AIP / 10 4 14 Ataxia–telangiectasia ATM BI 23 5 59 MONO 2 27 MRE11A BI 0 0 MONO 0 2 Hereditary papillary renal carcinoma FH / 20 12 37 MET / 3 2 Hematologic malignancies ** / 14 1 15 Hyperparathyroidism CDC73 / 19 16 51 CASR / 16 0 Cowden syndrome PTEN / 24 21 51 PIK3CA / 6 0 Fanconi syndrome FANC BI 17 10 50 MONO 5 17 RAD51 BI 0 0 MONO 0 1 Familial malignant melanoma CDKN2A / 28 26 120 BAP1 / 31 11 MITF / 20 0 POT1 / 3 0 CDK4 / 1 0 Neurofibromatosis NF1 / 430 137 682 NF2 / 36 3 LZTR1 / 30 3 SMARCB1 / 10 3 SPRED1 / 18 8 SMARCE1 / 4 0 RASopathies and Noonan syndrome *** / 159 NR 159 Retinoblastoma RB1 / 29 6 35 Birt–Hogg–Dubé syndrome FLCN / 112 55 167 Bloom syndrome BLM BI 0 2 5 MONO 0 3 Carney complex ARMC5 / 10 5