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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].