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Table 2 Recurrent CNV regions in patients without TP53 mutation

From: The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Chr Start position End position Type Size Genes associated Patient Tumor Age of onset Tumor Age of onset
chrX 148653235 148789920 Gain 136685 HSFX1, HSFX1, MAGEA9, MAGEA8 Y0123T000 Breast 37 Breast 37
chrX 148638057 148835731 Gain 197674 HSFX1, HSFX1, MAGEA9, MAGEA8 Y006T00 STS 15 Breast 32
chr19 2173067 2187671 Gain 14604 DOT1L, PLEKHJ1, hsa-mir-1227 Y101T000 Breast 48 Thyroid 52
chr19 2173067 2187671 Loss 14604 DOT1L, PLEKHJ1, hsa-mir-1227 Y0114T000 Osteosarcoma 30   
chr5 140207385 140243110 Gain 35725 PCDHA11, PCDHA12, PCDHA13 Y0110T000 Breast 36   
chr5 140207385 140243110 Loss 35725 PCDHA11, PCDHA12, PCDHA13 Y0112T000 Breast 34   
chr7 2182941 2234914 Gain 51973 MAD1L1 Y0143T000 Breast 42   
chr7 2182941 2244756 Loss 61815 MAD1L1, FTSJ2 Y0123T000 Bilateral breast 37, 37   
  1. STS – soft tissue sarcoma.