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Table 1 Features of the detected CNVs in TP53 mutated and non-mutated patients compared to controls: size, number of genes, and gene density

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

  TP53 type of mutation Number of individuals Number of CNVs (rare/common) Mean number of common CNVs Mean size of common CNVs (Kb) Gene density of common CNVs (gene number/Mb) Mean number of rare CNVs Mean size of rare CNVs (Kb) Gene density of rare CNVs (gene number/Mb)
TP53- mutated* DNA binding domain 9 10/56 7.33 ± 2.5 165.0 ± 233.3 14.0 1.11 ± 1.2 (p = 0.0086) 168.7 ± 202.8 15.4 (p = 0.0159)
R337H 12 3/89 7.67 ± 2.1 186.6 ± 343.0 (p = 0.0032) 10.4 0.25 ± 0.6 204 ± 161.6 8.1
All 21 13/145 7.6 ± 2.3 178.2 ± 304.6 (p = 0.0022) 12.8 0.65 ± 1.0 176.8 ± 188.3 13.4 (p = 0.0367)
TP53-wild type 70 40/527 7.5 ± 2.6 208.7 ± 459.9 (p = 0.0008) 9.0 0.57 ± 0.9 (p = 0.0145) 94.5 ± 101.8 (p = 0.0001) 31.4 (p = 0.0001)
Controls 100 23/679 6.7 ± 3.0 236.7 ± 454.0 8.8 0.23 ± 0.4 232.2 ± 152.7 8.6
  1. *Previously published results [13].