Correlation between copy number variations of arm-level result and molecular subtypes
Esophageal Carcinoma (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 variations of arm-level result and molecular subtypes. Broad Institute of MIT and Harvard. doi:10.7908/C1M906P6
Overview
Introduction

This pipeline computes the correlation between significant arm-level copy number variations (cnvs) and subtypes.

Summary

Testing the association between copy number variation 65 arm-level results and 2 molecular subtypes across 50 patients, 2 significant findings detected with Q value < 0.25.

  • 3q gain cnv correlated to 'CN_CNMF'.

  • 12p gain cnv correlated to 'CN_CNMF'.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between significant copy number variation of 65 arm-level results and 2 molecular subtypes. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, 2 significant findings detected.

Molecular
subtypes
CN
CNMF
METHLYATION
CNMF
nCNV (%) nWild-Type Fisher's exact test Fisher's exact test
3q gain 0 (0%) 31 2.78e-05
(0.00361)
0.00322
(0.406)
12p gain 0 (0%) 33 0.00137
(0.177)
0.0095
(1.00)
1p gain 0 (0%) 47 0.449
(1.00)
0.597
(1.00)
1q gain 0 (0%) 38 0.0666
(1.00)
1
(1.00)
2p gain 0 (0%) 39 0.00591
(0.727)
0.201
(1.00)
2q gain 0 (0%) 43 0.0217
(1.00)
0.0989
(1.00)
3p gain 0 (0%) 44 0.0677
(1.00)
0.29
(1.00)
4p gain 0 (0%) 47 0.449
(1.00)
0.794
(1.00)
5p gain 0 (0%) 37 0.461
(1.00)
0.317
(1.00)
6p gain 0 (0%) 47 0.239
(1.00)
1
(1.00)
7p gain 0 (0%) 26 0.0835
(1.00)
0.188
(1.00)
7q gain 0 (0%) 35 0.241
(1.00)
0.528
(1.00)
8p gain 0 (0%) 35 0.241
(1.00)
0.178
(1.00)
8q gain 0 (0%) 26 0.552
(1.00)
0.36
(1.00)
9p gain 0 (0%) 47 0.239
(1.00)
0.317
(1.00)
9q gain 0 (0%) 44 0.213
(1.00)
0.743
(1.00)
10p gain 0 (0%) 44 0.868
(1.00)
0.527
(1.00)
10q gain 0 (0%) 47 0.0112
(1.00)
1
(1.00)
12q gain 0 (0%) 45 0.191
(1.00)
0.289
(1.00)
13q gain 0 (0%) 44 0.00312
(0.396)
0.00365
(0.457)
14q gain 0 (0%) 42 0.628
(1.00)
0.167
(1.00)
16p gain 0 (0%) 47 1
(1.00)
0.317
(1.00)
17p gain 0 (0%) 43 0.39
(1.00)
0.08
(1.00)
17q gain 0 (0%) 43 1
(1.00)
0.575
(1.00)
18p gain 0 (0%) 39 0.152
(1.00)
0.333
(1.00)
18q gain 0 (0%) 47 0.78
(1.00)
1
(1.00)
19q gain 0 (0%) 43 0.017
(1.00)
0.242
(1.00)
20p gain 0 (0%) 31 0.935
(1.00)
0.526
(1.00)
20q gain 0 (0%) 27 0.419
(1.00)
0.439
(1.00)
21q gain 0 (0%) 47 0.239
(1.00)
0.597
(1.00)
22q gain 0 (0%) 43 0.885
(1.00)
0.575
(1.00)
Xq gain 0 (0%) 42 0.886
(1.00)
0.107
(1.00)
3p loss 0 (0%) 30 0.661
(1.00)
0.394
(1.00)
3q loss 0 (0%) 47 0.449
(1.00)
0.794
(1.00)
4p loss 0 (0%) 32 0.0961
(1.00)
0.0505
(1.00)
4q loss 0 (0%) 36 0.115
(1.00)
0.0211
(1.00)
5p loss 0 (0%) 42 0.628
(1.00)
0.246
(1.00)
5q loss 0 (0%) 36 0.149
(1.00)
0.0257
(1.00)
6p loss 0 (0%) 42 0.886
(1.00)
0.363
(1.00)
6q loss 0 (0%) 47 0.78
(1.00)
0.597
(1.00)
7p loss 0 (0%) 47 0.449
(1.00)
0.597
(1.00)
8p loss 0 (0%) 40 0.739
(1.00)
0.656
(1.00)
8q loss 0 (0%) 46 0.159
(1.00)
0.0388
(1.00)
9p loss 0 (0%) 31 0.213
(1.00)
0.236
(1.00)
9q loss 0 (0%) 42 0.101
(1.00)
0.167
(1.00)
10p loss 0 (0%) 41 1
(1.00)
0.573
(1.00)
10q loss 0 (0%) 39 0.0614
(1.00)
0.0237
(1.00)
11p loss 0 (0%) 39 0.192
(1.00)
0.0681
(1.00)
11q loss 0 (0%) 36 0.00297
(0.38)
0.0338
(1.00)
12p loss 0 (0%) 43 0.773
(1.00)
0.504
(1.00)
12q loss 0 (0%) 45 0.613
(1.00)
0.228
(1.00)
13q loss 0 (0%) 36 0.0193
(1.00)
0.0281
(1.00)
14q loss 0 (0%) 44 1
(1.00)
0.861
(1.00)
15q loss 0 (0%) 41 0.804
(1.00)
0.514
(1.00)
16p loss 0 (0%) 42 0.0854
(1.00)
0.0908
(1.00)
16q loss 0 (0%) 41 0.00604
(0.737)
0.408
(1.00)
17p loss 0 (0%) 40 0.664
(1.00)
0.00558
(0.692)
18p loss 0 (0%) 40 0.228
(1.00)
0.192
(1.00)
18q loss 0 (0%) 34 0.861
(1.00)
0.123
(1.00)
19p loss 0 (0%) 46 1
(1.00)
0.562
(1.00)
19q loss 0 (0%) 47 0.78
(1.00)
0.794
(1.00)
20p loss 0 (0%) 45 0.719
(1.00)
1
(1.00)
21q loss 0 (0%) 27 1
(1.00)
0.128
(1.00)
22q loss 0 (0%) 44 0.545
(1.00)
0.0636
(1.00)
Xq loss 0 (0%) 47 1
(1.00)
0.428
(1.00)
'3q gain' versus 'CN_CNMF'

P value = 2.78e-05 (Fisher's exact test), Q value = 0.0036

Table S1.  Gene #6: '3q gain' versus Molecular Subtype #1: 'CN_CNMF'

nPatients CLUS_1 CLUS_2 CLUS_3
ALL 20 12 18
3Q GAIN CNV 12 7 0
3Q GAIN WILD-TYPE 8 5 18

Figure S1.  Get High-res Image Gene #6: '3q gain' versus Molecular Subtype #1: 'CN_CNMF'

'12p gain' versus 'CN_CNMF'

P value = 0.00137 (Fisher's exact test), Q value = 0.18

Table S2.  Gene #18: '12p gain' versus Molecular Subtype #1: 'CN_CNMF'

nPatients CLUS_1 CLUS_2 CLUS_3
ALL 20 12 18
12P GAIN CNV 12 4 1
12P GAIN WILD-TYPE 8 8 17

Figure S2.  Get High-res Image Gene #18: '12p gain' versus Molecular Subtype #1: 'CN_CNMF'

Methods & Data
Input
  • Mutation data file = broad_values_by_arm.mutsig.cluster.txt

  • Molecular subtypes file = ESCA-TP.transferedmergedcluster.txt

  • Number of patients = 50

  • Number of significantly arm-level cnvs = 65

  • Number of molecular subtypes = 2

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

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

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] 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)
[2] 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)