Correlation between copy number variation genes (focal) and selected clinical features
Rectum Adenocarcinoma (Primary solid tumor)
23 May 2013  |  analyses__2013_05_23
Maintainer Information
Citation Information
Maintained by TCGA GDAC Team (Broad Institute/MD Anderson Cancer Center/Harvard Medical School)
Cite as Broad Institute TCGA Genome Data Analysis Center (2013): Correlation between copy number variation genes (focal) and selected clinical features. Broad Institute of MIT and Harvard. doi:10.7908/C1J67F1K
Overview
Introduction

This pipeline computes the correlation between significant copy number variation (cnv focal) genes and selected clinical features.

Summary

Testing the association between copy number variation 62 arm-level results and 11 clinical features across 162 patients, 2 significant findings detected with Q value < 0.25.

  • Del Peak 6(3q26.31) cnv correlated to 'Time to Death'.

  • Del Peak 30(18q21.2) cnv correlated to 'NUMBER.OF.LYMPH.NODES'.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between significant copy number variation of 62 arm-level results and 11 clinical features. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, 2 significant findings detected.

Clinical
Features
Time
to
Death
AGE GENDER HISTOLOGICAL
TYPE
RADIATIONS
RADIATION
REGIMENINDICATION
DISTANT
METASTASIS
LYMPH
NODE
METASTASIS
COMPLETENESS
OF
RESECTION
NUMBER
OF
LYMPH
NODES
TUMOR
STAGECODE
NEOPLASM
DISEASESTAGE
nCNV (%) nWild-Type logrank test t-test Fisher's exact test Fisher's exact test Fisher's exact test Fisher's exact test Chi-square test Fisher's exact test t-test t-test Chi-square test
Del Peak 6(3q26 31) 0 (0%) 145 7.37e-05
(0.0456)
0.705
(1.00)
0.0036
(1.00)
0.0303
(1.00)
0.121
(1.00)
0.2
(1.00)
0.183
(1.00)
0.0387
(1.00)
0.242
(1.00)
0.0395
(1.00)
Del Peak 30(18q21 2) 0 (0%) 19 0.656
(1.00)
0.443
(1.00)
1
(1.00)
1
(1.00)
1
(1.00)
0.208
(1.00)
0.212
(1.00)
0.673
(1.00)
0.00019
(0.118)
0.044
(1.00)
Amp Peak 1(1q21 3) 0 (0%) 114 0.53
(1.00)
0.951
(1.00)
0.863
(1.00)
1
(1.00)
0.0639
(1.00)
0.106
(1.00)
0.223
(1.00)
0.691
(1.00)
0.203
(1.00)
0.726
(1.00)
Amp Peak 2(1q32 2) 0 (0%) 114 0.0479
(1.00)
0.645
(1.00)
1
(1.00)
1
(1.00)
0.362
(1.00)
0.357
(1.00)
0.0799
(1.00)
0.64
(1.00)
0.0158
(1.00)
0.664
(1.00)
Amp Peak 3(5q22 3) 0 (0%) 143 0.532
(1.00)
0.383
(1.00)
0.81
(1.00)
0.37
(1.00)
1
(1.00)
0.743
(1.00)
0.311
(1.00)
0.806
(1.00)
0.412
(1.00)
0.56
(1.00)
Amp Peak 4(6p21 1) 0 (0%) 110 0.174
(1.00)
0.528
(1.00)
0.4
(1.00)
0.0626
(1.00)
0.0844
(1.00)
0.00762
(1.00)
0.0116
(1.00)
0.0957
(1.00)
0.0734
(1.00)
0.186
(1.00)
Amp Peak 5(8p11 23) 0 (0%) 110 0.0834
(1.00)
0.264
(1.00)
0.0635
(1.00)
0.222
(1.00)
1
(1.00)
0.305
(1.00)
0.13
(1.00)
0.0229
(1.00)
0.294
(1.00)
0.118
(1.00)
Amp Peak 6(8p11 21) 0 (0%) 93 0.47
(1.00)
0.541
(1.00)
0.637
(1.00)
0.154
(1.00)
0.241
(1.00)
0.191
(1.00)
0.357
(1.00)
0.00288
(1.00)
0.618
(1.00)
0.102
(1.00)
Amp Peak 7(8q24 21) 0 (0%) 55 0.684
(1.00)
0.228
(1.00)
0.868
(1.00)
0.0326
(1.00)
0.665
(1.00)
0.533
(1.00)
0.946
(1.00)
0.372
(1.00)
0.831
(1.00)
0.235
(1.00)
Amp Peak 8(10q22 2) 0 (0%) 151 0.308
(1.00)
0.686
(1.00)
0.551
(1.00)
0.592
(1.00)
0.349
(1.00)
0.743
(1.00)
0.0292
(1.00)
1
(1.00)
0.918
(1.00)
0.939
(1.00)
Amp Peak 9(11p15 5) 0 (0%) 119 0.622
(1.00)
0.969
(1.00)
1
(1.00)
0.188
(1.00)
0.656
(1.00)
0.803
(1.00)
0.486
(1.00)
0.938
(1.00)
0.671
(1.00)
0.543
(1.00)
Amp Peak 10(11q13 3) 0 (0%) 136 0.446
(1.00)
0.0577
(1.00)
1
(1.00)
0.697
(1.00)
0.591
(1.00)
0.288
(1.00)
0.271
(1.00)
0.66
(1.00)
0.0323
(1.00)
0.401
(1.00)
Amp Peak 11(12p13 33) 0 (0%) 121 0.984
(1.00)
0.246
(1.00)
0.589
(1.00)
0.308
(1.00)
0.171
(1.00)
0.105
(1.00)
0.819
(1.00)
0.274
(1.00)
0.349
(1.00)
0.732
(1.00)
Amp Peak 12(12p12 1) 0 (0%) 122 0.702
(1.00)
0.334
(1.00)
0.716
(1.00)
0.191
(1.00)
0.161
(1.00)
0.0872
(1.00)
0.76
(1.00)
0.219
(1.00)
0.106
(1.00)
0.576
(1.00)
Amp Peak 13(13q12 13) 0 (0%) 41 0.0403
(1.00)
0.113
(1.00)
0.718
(1.00)
0.00387
(1.00)
0.171
(1.00)
0.254
(1.00)
0.0381
(1.00)
1
(1.00)
0.459
(1.00)
0.0954
(1.00)
Amp Peak 14(13q12 2) 0 (0%) 42 0.0502
(1.00)
0.0514
(1.00)
0.369
(1.00)
0.00467
(1.00)
0.181
(1.00)
0.306
(1.00)
0.0588
(1.00)
1
(1.00)
0.459
(1.00)
0.135
(1.00)
Amp Peak 15(13q22 1) 0 (0%) 45 0.195
(1.00)
0.337
(1.00)
0.482
(1.00)
0.00132
(0.812)
0.67
(1.00)
0.289
(1.00)
0.28
(1.00)
0.801
(1.00)
0.928
(1.00)
0.834
(1.00)
Amp Peak 16(15q26 1) 0 (0%) 147 0.856
(1.00)
0.944
(1.00)
0.106
(1.00)
0.362
(1.00)
0.0967
(1.00)
0.446
(1.00)
0.411
(1.00)
0.375
(1.00)
0.473
(1.00)
0.345
(1.00)
Amp Peak 17(16p11 2) 0 (0%) 117 0.183
(1.00)
0.323
(1.00)
0.862
(1.00)
0.0205
(1.00)
0.67
(1.00)
0.0837
(1.00)
0.315
(1.00)
0.0597
(1.00)
0.968
(1.00)
0.137
(1.00)
Amp Peak 18(17q12) 0 (0%) 119 0.641
(1.00)
0.676
(1.00)
0.215
(1.00)
0.517
(1.00)
0.343
(1.00)
0.335
(1.00)
0.438
(1.00)
0.173
(1.00)
0.3
(1.00)
0.717
(1.00)
Amp Peak 19(17q24 1) 0 (0%) 125 0.648
(1.00)
0.423
(1.00)
1
(1.00)
0.0401
(1.00)
0.338
(1.00)
0.192
(1.00)
0.346
(1.00)
0.221
(1.00)
0.238
(1.00)
0.426
(1.00)
Amp Peak 20(19p13 2) 0 (0%) 130 0.0236
(1.00)
0.451
(1.00)
0.693
(1.00)
0.0717
(1.00)
0.599
(1.00)
0.578
(1.00)
0.545
(1.00)
0.511
(1.00)
0.522
(1.00)
0.451
(1.00)
Amp Peak 21(20q11 21) 0 (0%) 19 0.204
(1.00)
0.099
(1.00)
1
(1.00)
0.000738
(0.454)
0.533
(1.00)
0.547
(1.00)
0.727
(1.00)
0.581
(1.00)
0.514
(1.00)
0.26
(1.00)
Amp Peak 22(20q11 23) 0 (0%) 18 0.206
(1.00)
0.179
(1.00)
1
(1.00)
0.000498
(0.307)
0.513
(1.00)
0.433
(1.00)
0.537
(1.00)
0.581
(1.00)
0.514
(1.00)
0.282
(1.00)
Amp Peak 23(20q13 31) 0 (0%) 17 0.212
(1.00)
0.239
(1.00)
0.8
(1.00)
0.000498
(0.307)
0.492
(1.00)
0.493
(1.00)
0.624
(1.00)
0.55
(1.00)
0.474
(1.00)
0.324
(1.00)
Amp Peak 24(Xp22 2) 0 (0%) 129 0.94
(1.00)
0.427
(1.00)
0.0771
(1.00)
0.303
(1.00)
0.348
(1.00)
0.465
(1.00)
0.495
(1.00)
0.273
(1.00)
0.407
(1.00)
0.0586
(1.00)
Amp Peak 25(Xq27 3) 0 (0%) 124 0.446
(1.00)
0.225
(1.00)
0.356
(1.00)
0.3
(1.00)
0.337
(1.00)
0.667
(1.00)
0.592
(1.00)
0.685
(1.00)
0.862
(1.00)
0.541
(1.00)
Del Peak 1(1p36 11) 0 (0%) 91 0.928
(1.00)
0.617
(1.00)
0.751
(1.00)
0.56
(1.00)
1
(1.00)
0.393
(1.00)
0.621
(1.00)
0.327
(1.00)
0.0385
(1.00)
0.607
(1.00)
Del Peak 2(1p33) 0 (0%) 113 0.528
(1.00)
0.652
(1.00)
1
(1.00)
0.11
(1.00)
0.368
(1.00)
0.76
(1.00)
0.631
(1.00)
0.547
(1.00)
0.594
(1.00)
0.89
(1.00)
Del Peak 3(1p13 2) 0 (0%) 111 0.952
(1.00)
0.646
(1.00)
0.735
(1.00)
0.347
(1.00)
0.38
(1.00)
0.499
(1.00)
0.798
(1.00)
0.688
(1.00)
0.217
(1.00)
0.149
(1.00)
Del Peak 4(2p12) 0 (0%) 145 0.499
(1.00)
0.175
(1.00)
0.8
(1.00)
1
(1.00)
0.492
(1.00)
0.285
(1.00)
0.812
(1.00)
1
(1.00)
0.457
(1.00)
0.178
(1.00)
Del Peak 5(3p14 2) 0 (0%) 133 0.0498
(1.00)
0.811
(1.00)
0.013
(1.00)
0.456
(1.00)
0.292
(1.00)
0.285
(1.00)
0.578
(1.00)
0.0853
(1.00)
0.389
(1.00)
0.142
(1.00)
Del Peak 7(4p13) 0 (0%) 104 0.219
(1.00)
0.877
(1.00)
0.0996
(1.00)
0.38
(1.00)
0.00177
(1.00)
0.961
(1.00)
0.36
(1.00)
0.399
(1.00)
0.671
(1.00)
0.661
(1.00)
Del Peak 8(4q22 1) 0 (0%) 90 0.11
(1.00)
0.378
(1.00)
0.153
(1.00)
0.393
(1.00)
0.0892
(1.00)
0.857
(1.00)
0.486
(1.00)
0.215
(1.00)
0.0753
(1.00)
0.444
(1.00)
Del Peak 9(4q35 1) 0 (0%) 90 0.3
(1.00)
0.645
(1.00)
0.428
(1.00)
0.15
(1.00)
0.0892
(1.00)
0.957
(1.00)
0.806
(1.00)
0.118
(1.00)
0.332
(1.00)
0.386
(1.00)
Del Peak 10(5q11 2) 0 (0%) 113 0.716
(1.00)
0.836
(1.00)
0.233
(1.00)
0.347
(1.00)
0.01
(1.00)
0.336
(1.00)
0.736
(1.00)
0.888
(1.00)
0.713
(1.00)
0.654
(1.00)
Del Peak 11(5q22 2) 0 (0%) 107 0.573
(1.00)
0.56
(1.00)
0.405
(1.00)
0.222
(1.00)
0.0176
(1.00)
0.903
(1.00)
0.833
(1.00)
1
(1.00)
0.377
(1.00)
0.449
(1.00)
Del Peak 12(6p25 3) 0 (0%) 138 0.399
(1.00)
0.391
(1.00)
0.825
(1.00)
0.386
(1.00)
0.217
(1.00)
0.67
(1.00)
0.877
(1.00)
0.66
(1.00)
0.944
(1.00)
0.255
(1.00)
Del Peak 13(6q26) 0 (0%) 132 0.431
(1.00)
0.852
(1.00)
0.158
(1.00)
0.0138
(1.00)
0.308
(1.00)
0.677
(1.00)
0.0381
(1.00)
0.588
(1.00)
0.205
(1.00)
0.5
(1.00)
Del Peak 14(7q31 1) 0 (0%) 158 0.174
(1.00)
1
(1.00)
0.296
(1.00)
1
(1.00)
1
(1.00)
0.975
(1.00)
1
(1.00)
0.544
(1.00)
0.921
(1.00)
Del Peak 15(8p23 2) 0 (0%) 62 0.72
(1.00)
0.494
(1.00)
0.872
(1.00)
0.564
(1.00)
0.0831
(1.00)
0.799
(1.00)
0.469
(1.00)
0.386
(1.00)
0.116
(1.00)
0.455
(1.00)
Del Peak 16(8p11 21) 0 (0%) 138 0.85
(1.00)
0.184
(1.00)
0.506
(1.00)
1
(1.00)
0.217
(1.00)
0.0829
(1.00)
0.952
(1.00)
0.742
(1.00)
0.105
(1.00)
0.492
(1.00)
Del Peak 17(10q21 1) 0 (0%) 125 0.503
(1.00)
0.261
(1.00)
0.574
(1.00)
0.179
(1.00)
0.0249
(1.00)
0.107
(1.00)
0.442
(1.00)
0.109
(1.00)
0.854
(1.00)
0.347
(1.00)
Del Peak 18(10q25 2) 0 (0%) 115 0.428
(1.00)
0.369
(1.00)
0.864
(1.00)
0.0535
(1.00)
0.00819
(1.00)
0.563
(1.00)
0.625
(1.00)
0.204
(1.00)
0.975
(1.00)
0.439
(1.00)
Del Peak 19(11q22 3) 0 (0%) 125 0.302
(1.00)
0.453
(1.00)
0.71
(1.00)
0.0322
(1.00)
0.133
(1.00)
0.0617
(1.00)
0.0292
(1.00)
0.164
(1.00)
0.233
(1.00)
0.546
(1.00)
Del Peak 20(12p13 1) 0 (0%) 129 0.0841
(1.00)
0.894
(1.00)
0.845
(1.00)
0.465
(1.00)
1
(1.00)
0.28
(1.00)
0.487
(1.00)
0.568
(1.00)
0.463
(1.00)
0.262
(1.00)
Del Peak 21(12q21 33) 0 (0%) 134 0.619
(1.00)
0.292
(1.00)
1
(1.00)
0.469
(1.00)
0.277
(1.00)
0.677
(1.00)
0.777
(1.00)
0.314
(1.00)
0.806
(1.00)
0.0534
(1.00)
Del Peak 22(14q11 2) 0 (0%) 95 0.225
(1.00)
0.427
(1.00)
0.427
(1.00)
0.0746
(1.00)
0.232
(1.00)
0.724
(1.00)
0.679
(1.00)
0.101
(1.00)
0.54
(1.00)
0.528
(1.00)
Del Peak 23(14q31 1) 0 (0%) 93 0.598
(1.00)
0.84
(1.00)
0.27
(1.00)
0.00787
(1.00)
1
(1.00)
0.606
(1.00)
0.297
(1.00)
0.436
(1.00)
0.533
(1.00)
0.145
(1.00)
Del Peak 24(15q22 33) 0 (0%) 87 0.549
(1.00)
0.86
(1.00)
0.344
(1.00)
1
(1.00)
0.0966
(1.00)
0.741
(1.00)
0.538
(1.00)
0.575
(1.00)
0.0324
(1.00)
0.0788
(1.00)
Del Peak 25(16p13 3) 0 (0%) 149 0.00401
(1.00)
0.433
(1.00)
1
(1.00)
0.263
(1.00)
1
(1.00)
0.797
(1.00)
0.647
(1.00)
1
(1.00)
0.302
(1.00)
0.0792
(1.00)
Del Peak 26(16q23 1) 0 (0%) 139 0.933
(1.00)
0.585
(1.00)
0.826
(1.00)
1
(1.00)
1
(1.00)
0.841
(1.00)
0.0468
(1.00)
1
(1.00)
0.0773
(1.00)
0.0099
(1.00)
Del Peak 27(17p12) 0 (0%) 52 0.393
(1.00)
0.0943
(1.00)
0.866
(1.00)
0.122
(1.00)
1
(1.00)
0.88
(1.00)
0.713
(1.00)
0.854
(1.00)
0.733
(1.00)
0.586
(1.00)
Del Peak 28(17p11 2) 0 (0%) 60 0.767
(1.00)
0.201
(1.00)
0.514
(1.00)
0.0783
(1.00)
0.671
(1.00)
0.357
(1.00)
0.526
(1.00)
0.862
(1.00)
0.683
(1.00)
0.883
(1.00)
Del Peak 29(17q25 3) 0 (0%) 138 0.0996
(1.00)
0.696
(1.00)
0.119
(1.00)
1
(1.00)
0.217
(1.00)
0.13
(1.00)
0.581
(1.00)
0.102
(1.00)
0.665
(1.00)
0.871
(1.00)
Del Peak 31(18q22 1) 0 (0%) 24 0.656
(1.00)
0.227
(1.00)
0.825
(1.00)
0.397
(1.00)
0.593
(1.00)
0.567
(1.00)
0.58
(1.00)
0.585
(1.00)
0.00254
(1.00)
0.136
(1.00)
Del Peak 32(19p13 3) 0 (0%) 124 0.828
(1.00)
0.795
(1.00)
1
(1.00)
0.734
(1.00)
1
(1.00)
0.251
(1.00)
0.689
(1.00)
0.778
(1.00)
0.716
(1.00)
0.802
(1.00)
Del Peak 33(20p12 1) 0 (0%) 102 0.13
(1.00)
0.23
(1.00)
0.257
(1.00)
1
(1.00)
0.0855
(1.00)
0.473
(1.00)
0.864
(1.00)
0.466
(1.00)
0.603
(1.00)
0.731
(1.00)
Del Peak 34(20p12 1) 0 (0%) 102 0.13
(1.00)
0.23
(1.00)
0.257
(1.00)
1
(1.00)
0.0855
(1.00)
0.473
(1.00)
0.864
(1.00)
0.466
(1.00)
0.603
(1.00)
0.731
(1.00)
Del Peak 35(21q11 2) 0 (0%) 92 0.998
(1.00)
0.454
(1.00)
0.633
(1.00)
0.24
(1.00)
1
(1.00)
0.764
(1.00)
0.587
(1.00)
0.501
(1.00)
0.286
(1.00)
0.381
(1.00)
Del Peak 36(22q13 31) 0 (0%) 96 0.0586
(1.00)
0.255
(1.00)
0.339
(1.00)
0.563
(1.00)
0.688
(1.00)
0.207
(1.00)
0.0917
(1.00)
0.246
(1.00)
0.372
(1.00)
0.191
(1.00)
Del Peak 37(Xp22 33) 0 (0%) 129 0.616
(1.00)
0.681
(1.00)
0.845
(1.00)
0.716
(1.00)
1
(1.00)
0.596
(1.00)
0.981
(1.00)
0.682
(1.00)
0.813
(1.00)
0.885
(1.00)
'Del Peak 6(3q26.31)' versus 'Time to Death'

P value = 7.37e-05 (logrank test), Q value = 0.046

Table S1.  Gene #31: 'Del Peak 6(3q26.31)' versus Clinical Feature #1: 'Time to Death'

nPatients nDeath Duration Range (Median), Month
ALL 130 11 0.2 - 121.1 (6.2)
DEL PEAK 6(3Q26.31) CNV 15 3 0.2 - 38.9 (2.8)
DEL PEAK 6(3Q26.31) WILD-TYPE 115 8 0.4 - 121.1 (6.9)

Figure S1.  Get High-res Image Gene #31: 'Del Peak 6(3q26.31)' versus Clinical Feature #1: 'Time to Death'

'Del Peak 30(18q21.2)' versus 'NUMBER.OF.LYMPH.NODES'

P value = 0.00019 (t-test), Q value = 0.12

Table S2.  Gene #55: 'Del Peak 30(18q21.2)' versus Clinical Feature #9: 'NUMBER.OF.LYMPH.NODES'

nPatients Mean (Std.Dev)
ALL 152 2.6 (5.4)
DEL PEAK 30(18Q21.2) CNV 133 2.9 (5.6)
DEL PEAK 30(18Q21.2) WILD-TYPE 19 0.6 (1.4)

Figure S2.  Get High-res Image Gene #55: 'Del Peak 30(18q21.2)' versus Clinical Feature #9: 'NUMBER.OF.LYMPH.NODES'

Methods & Data
Input
  • Mutation data file = all_lesions.conf_99.cnv.cluster.txt

  • Clinical data file = READ-TP.clin.merged.picked.txt

  • Number of patients = 162

  • Number of significantly arm-level cnvs = 62

  • Number of selected clinical features = 11

  • Exclude genes that fewer than K tumors have mutations, K = 3

Survival analysis

For survival clinical features, the Kaplan-Meier survival curves of tumors with and without gene mutations were plotted and the statistical significance P values were estimated by logrank test (Bland and Altman 2004) using the 'survdiff' function in R

Student's t-test analysis

For continuous numerical clinical features, two-tailed Student's t test with unequal variance (Lehmann and Romano 2005) was applied to compare the clinical values between tumors with and without gene mutations using 't.test' function in R

Fisher's exact test

For binary or multi-class clinical features (nominal or ordinal), two-tailed Fisher's exact tests (Fisher 1922) were used to estimate the P values using the 'fisher.test' function in R

Chi-square test

For multi-class clinical features (nominal or ordinal), Chi-square tests (Greenwood and Nikulin 1996) were used to estimate the P values using the 'chisq.test' function in R

Q value calculation

For multiple hypothesis correction, Q value is the False Discovery Rate (FDR) analogue of the P value (Benjamini and Hochberg 1995), defined as the minimum FDR at which the test may be called significant. We used the 'Benjamini and Hochberg' method of 'p.adjust' function in R to convert P values into Q values.

Download Results

This is an experimental feature. The full results of the analysis summarized in this report can be downloaded from the TCGA Data Coordination Center.

References
[1] Bland and Altman, Statistics notes: The logrank test, BMJ 328(7447):1073 (2004)
[2] Lehmann and Romano, Testing Statistical Hypotheses (3E ed.), New York: Springer. ISBN 0387988645 (2005)
[3] Fisher, R.A., On the interpretation of chi-square from contingency tables, and the calculation of P, Journal of the Royal Statistical Society 85(1):87-94 (1922)
[4] Greenwood and Nikulin, A guide to chi-squared testing, Wiley, New York. ISBN 047155779X (1996)
[5] Benjamini and Hochberg, Controlling the false discovery rate: a practical and powerful approach to multiple testing, Journal of the Royal Statistical Society Series B 59:289-300 (1995)