Correlation between gene mutation status and selected clinical features
Overview
Introduction

This pipeline computes the correlation between significantly recurrent gene mutations and selected clinical features.

Summary

Testing the association between mutation status of 123 genes and 5 clinical features across 248 patients, 9 significant findings detected with Q value < 0.25.

  • PTEN mutation correlated to 'HISTOLOGICAL.TYPE'.

  • CTNNB1 mutation correlated to 'HISTOLOGICAL.TYPE'.

  • KRAS mutation correlated to 'AGE'.

  • TP53 mutation correlated to 'AGE',  'HISTOLOGICAL.TYPE', and 'NEOADJUVANT.THERAPY'.

  • SAP30 mutation correlated to 'HISTOLOGICAL.TYPE'.

  • ZNF69 mutation correlated to 'HISTOLOGICAL.TYPE'.

  • ANKRD31 mutation correlated to 'HISTOLOGICAL.TYPE'.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between mutation status of 123 genes and 5 clinical features. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, 9 significant findings detected.

Clinical
Features
Time
to
Death
AGE HISTOLOGICAL
TYPE
RADIATIONS
RADIATION
REGIMENINDICATION
NEOADJUVANT
THERAPY
nMutated (%) nWild-Type logrank test t-test Chi-square test Fisher's exact test Fisher's exact test
TP53 69 (28%) 179 0.325
(1.00)
6.15e-06
(0.00376)
3.98e-23
(2.45e-20)
0.371
(1.00)
6.08e-05
(0.037)
PTEN 161 (65%) 87 0.19
(1.00)
0.0276
(1.00)
5.44e-19
(3.34e-16)
0.0503
(1.00)
0.0016
(0.956)
CTNNB1 74 (30%) 174 0.878
(1.00)
0.0017
(1.00)
1.04e-05
(0.00636)
0.381
(1.00)
0.0124
(1.00)
KRAS 53 (21%) 195 0.072
(1.00)
0.000274
(0.166)
0.00692
(1.00)
0.253
(1.00)
0.00892
(1.00)
SAP30 4 (2%) 244 0.648
(1.00)
0.57
(1.00)
1.34e-08
(8.19e-06)
1
(1.00)
0.577
(1.00)
ZNF69 7 (3%) 241 0.514
(1.00)
0.0163
(1.00)
0.000147
(0.0892)
1
(1.00)
0.396
(1.00)
ANKRD31 17 (7%) 231 0.2
(1.00)
0.964
(1.00)
4.87e-05
(0.0297)
0.432
(1.00)
1
(1.00)
FBXW7 39 (16%) 209 0.772
(1.00)
0.904
(1.00)
0.0473
(1.00)
0.855
(1.00)
0.117
(1.00)
SPOP 21 (8%) 227 0.65
(1.00)
0.527
(1.00)
0.332
(1.00)
0.811
(1.00)
0.452
(1.00)
CTCF 45 (18%) 203 0.405
(1.00)
0.0198
(1.00)
0.0021
(1.00)
0.863
(1.00)
1
(1.00)
PIK3CA 132 (53%) 116 0.055
(1.00)
0.195
(1.00)
0.555
(1.00)
0.593
(1.00)
0.887
(1.00)
PIK3R1 83 (33%) 165 0.871
(1.00)
0.806
(1.00)
0.000827
(0.499)
0.395
(1.00)
0.293
(1.00)
PPP2R1A 27 (11%) 221 0.121
(1.00)
0.0374
(1.00)
0.00977
(1.00)
0.52
(1.00)
0.112
(1.00)
PRKAR1B 4 (2%) 244 0.702
(1.00)
0.978
(1.00)
0.961
(1.00)
0.608
(1.00)
1
(1.00)
FGFR2 31 (12%) 217 0.9
(1.00)
0.998
(1.00)
0.719
(1.00)
1
(1.00)
0.39
(1.00)
ARID1A 83 (33%) 165 0.008
(1.00)
0.00721
(1.00)
0.00127
(0.759)
0.673
(1.00)
0.0234
(1.00)
CHD4 35 (14%) 213 0.361
(1.00)
0.418
(1.00)
0.779
(1.00)
0.565
(1.00)
0.683
(1.00)
NFE2L2 15 (6%) 233 0.903
(1.00)
0.191
(1.00)
0.447
(1.00)
0.589
(1.00)
1
(1.00)
P2RY11 9 (4%) 239 0.395
(1.00)
0.396
(1.00)
0.987
(1.00)
0.497
(1.00)
0.709
(1.00)
CCND1 15 (6%) 233 0.729
(1.00)
0.0556
(1.00)
0.413
(1.00)
0.4
(1.00)
0.13
(1.00)
SOX17 7 (3%) 241 0.669
(1.00)
0.848
(1.00)
0.00567
(1.00)
0.428
(1.00)
0.677
(1.00)
FOXA2 12 (5%) 236 0.799
(1.00)
0.531
(1.00)
0.972
(1.00)
0.229
(1.00)
1
(1.00)
FAM9A 14 (6%) 234 0.378
(1.00)
0.913
(1.00)
0.89
(1.00)
1
(1.00)
0.121
(1.00)
DNER 18 (7%) 230 0.746
(1.00)
0.0414
(1.00)
0.0324
(1.00)
0.44
(1.00)
0.277
(1.00)
SMTNL2 9 (4%) 239 0.472
(1.00)
0.53
(1.00)
0.579
(1.00)
1
(1.00)
0.451
(1.00)
RBMX 13 (5%) 235 0.336
(1.00)
0.161
(1.00)
0.4
(1.00)
0.142
(1.00)
0.756
(1.00)
PGR 12 (5%) 236 0.268
(1.00)
0.228
(1.00)
0.0105
(1.00)
1
(1.00)
0.52
(1.00)
TNFAIP6 12 (5%) 236 0.819
(1.00)
0.302
(1.00)
0.6
(1.00)
1
(1.00)
0.741
(1.00)
SGK1 15 (6%) 233 0.925
(1.00)
0.427
(1.00)
0.759
(1.00)
0.158
(1.00)
0.563
(1.00)
PDE8B 16 (6%) 232 0.196
(1.00)
0.135
(1.00)
0.0275
(1.00)
1
(1.00)
0.568
(1.00)
HPD 7 (3%) 241 0.43
(1.00)
0.0538
(1.00)
0.0585
(1.00)
1
(1.00)
1
(1.00)
RPL14 7 (3%) 241 0.532
(1.00)
0.677
(1.00)
0.991
(1.00)
0.428
(1.00)
0.396
(1.00)
TAP1 8 (3%) 240 0.588
(1.00)
0.877
(1.00)
0.343
(1.00)
1
(1.00)
0.452
(1.00)
MAX 11 (4%) 237 0.889
(1.00)
0.336
(1.00)
0.404
(1.00)
0.753
(1.00)
0.732
(1.00)
ZNF286A 12 (5%) 236 0.308
(1.00)
0.518
(1.00)
0.00262
(1.00)
0.229
(1.00)
1
(1.00)
RASA1 22 (9%) 226 0.127
(1.00)
0.466
(1.00)
0.0211
(1.00)
0.639
(1.00)
0.803
(1.00)
ABI1 4 (2%) 244 0.663
(1.00)
0.0342
(1.00)
0.961
(1.00)
0.302
(1.00)
0.303
(1.00)
NRAS 9 (4%) 239 0.354
(1.00)
0.616
(1.00)
0.0289
(1.00)
0.722
(1.00)
0.451
(1.00)
ZNF367 8 (3%) 240 0.449
(1.00)
0.365
(1.00)
0.628
(1.00)
0.127
(1.00)
1
(1.00)
ING1 13 (5%) 235 0.37
(1.00)
0.694
(1.00)
0.178
(1.00)
0.142
(1.00)
1
(1.00)
MFGE8 4 (2%) 244 0.533
(1.00)
0.127
(1.00)
0.0702
(1.00)
1
(1.00)
0.303
(1.00)
ZNF267 16 (6%) 232 0.565
(1.00)
0.207
(1.00)
0.0275
(1.00)
0.79
(1.00)
1
(1.00)
ARID5B 29 (12%) 219 0.642
(1.00)
0.649
(1.00)
0.00865
(1.00)
1
(1.00)
0.508
(1.00)
DYRK1A 12 (5%) 236 0.939
(1.00)
0.386
(1.00)
0.595
(1.00)
0.552
(1.00)
1
(1.00)
EMB 8 (3%) 240 0.443
(1.00)
0.497
(1.00)
0.000594
(0.359)
0.719
(1.00)
0.452
(1.00)
ESR1 11 (4%) 237 0.329
(1.00)
0.317
(1.00)
0.653
(1.00)
0.518
(1.00)
0.179
(1.00)
NAA30 8 (3%) 240 0.565
(1.00)
0.358
(1.00)
0.518
(1.00)
0.719
(1.00)
0.688
(1.00)
CHSY3 10 (4%) 238 0.862
(1.00)
0.00805
(1.00)
0.62
(1.00)
0.739
(1.00)
0.468
(1.00)
SIN3A 21 (8%) 227 0.574
(1.00)
0.256
(1.00)
0.1
(1.00)
0.811
(1.00)
0.609
(1.00)
CYLC1 18 (7%) 230 0.198
(1.00)
0.765
(1.00)
0.000601
(0.363)
0.313
(1.00)
0.413
(1.00)
METTL14 10 (4%) 238 0.358
(1.00)
0.833
(1.00)
0.707
(1.00)
1
(1.00)
0.293
(1.00)
MORC4 20 (8%) 228 0.152
(1.00)
0.0204
(1.00)
0.629
(1.00)
1
(1.00)
0.295
(1.00)
TAB3 18 (7%) 230 0.22
(1.00)
0.107
(1.00)
0.00686
(1.00)
0.616
(1.00)
1
(1.00)
TPTE 15 (6%) 233 0.273
(1.00)
0.167
(1.00)
0.00648
(1.00)
1
(1.00)
0.369
(1.00)
UPF3B 16 (6%) 232 0.735
(1.00)
0.81
(1.00)
0.395
(1.00)
0.588
(1.00)
0.0775
(1.00)
C9ORF102 16 (6%) 232 0.245
(1.00)
0.35
(1.00)
0.0343
(1.00)
0.588
(1.00)
0.568
(1.00)
RHBDD3 4 (2%) 244 0.587
(1.00)
0.206
(1.00)
0.961
(1.00)
0.608
(1.00)
0.577
(1.00)
C12ORF34 6 (2%) 242 0.542
(1.00)
0.676
(1.00)
0.897
(1.00)
1
(1.00)
0.193
(1.00)
FUT4 3 (1%) 245 0.87
(1.00)
0.837
(1.00)
0.0165
(1.00)
0.271
(1.00)
0.564
(1.00)
C7ORF60 10 (4%) 238 0.31
(1.00)
0.136
(1.00)
0.707
(1.00)
0.318
(1.00)
0.732
(1.00)
GYPB 5 (2%) 243 0.583
(1.00)
0.843
(1.00)
0.149
(1.00)
0.168
(1.00)
1
(1.00)
NHSL2 12 (5%) 236 0.992
(1.00)
0.506
(1.00)
0.0105
(1.00)
0.756
(1.00)
1
(1.00)
OR4K2 11 (4%) 237 0.304
(1.00)
0.241
(1.00)
0.00658
(1.00)
1
(1.00)
0.499
(1.00)
ZRANB3 8 (3%) 240 0.325
(1.00)
0.839
(1.00)
0.000987
(0.593)
0.451
(1.00)
0.452
(1.00)
KIF26B 19 (8%) 229 0.768
(1.00)
0.403
(1.00)
0.054
(1.00)
0.46
(1.00)
0.294
(1.00)
ZNF263 8 (3%) 240 0.452
(1.00)
0.219
(1.00)
0.809
(1.00)
1
(1.00)
0.22
(1.00)
DCAF4 4 (2%) 244 0.611
(1.00)
0.0779
(1.00)
0.328
(1.00)
1
(1.00)
1
(1.00)
PSMG4 5 (2%) 243 0.619
(1.00)
0.778
(1.00)
0.000441
(0.267)
0.663
(1.00)
0.327
(1.00)
TWF1 8 (3%) 240 0.437
(1.00)
0.888
(1.00)
0.205
(1.00)
0.27
(1.00)
1
(1.00)
OR52I2 8 (3%) 240 0.731
(1.00)
0.559
(1.00)
0.0802
(1.00)
0.451
(1.00)
0.452
(1.00)
SERHL2 6 (2%) 242 0.464
(1.00)
0.666
(1.00)
0.897
(1.00)
0.185
(1.00)
0.667
(1.00)
UBE2QL1 5 (2%) 243 0.753
(1.00)
0.163
(1.00)
0.933
(1.00)
0.342
(1.00)
1
(1.00)
ZNF649 14 (6%) 234 0.246
(1.00)
0.288
(1.00)
0.182
(1.00)
0.777
(1.00)
1
(1.00)
CHEK2 13 (5%) 235 0.891
(1.00)
0.0163
(1.00)
0.0307
(1.00)
1
(1.00)
0.352
(1.00)
IGFBP7 6 (2%) 242 0.406
(1.00)
0.659
(1.00)
0.228
(1.00)
0.667
(1.00)
0.667
(1.00)
OR5D13 10 (4%) 238 0.895
(1.00)
0.741
(1.00)
0.188
(1.00)
0.318
(1.00)
0.468
(1.00)
CSDE1 21 (8%) 227 0.802
(1.00)
0.294
(1.00)
0.0435
(1.00)
1
(1.00)
0.452
(1.00)
HLA-B 4 (2%) 244 0.523
(1.00)
0.52
(1.00)
0.078
(1.00)
0.302
(1.00)
0.303
(1.00)
OR4D2 3 (1%) 245 0.648
(1.00)
0.693
(1.00)
0.981
(1.00)
0.271
(1.00)
0.564
(1.00)
FMR1 16 (6%) 232 0.304
(1.00)
0.643
(1.00)
0.0688
(1.00)
0.588
(1.00)
0.0775
(1.00)
CNPY1 7 (3%) 241 0.449
(1.00)
0.18
(1.00)
0.294
(1.00)
1
(1.00)
0.677
(1.00)
HIST1H2AG 7 (3%) 241 0.542
(1.00)
0.416
(1.00)
0.991
(1.00)
0.0485
(1.00)
1
(1.00)
CTXN3 6 (2%) 242 0.512
(1.00)
0.794
(1.00)
0.548
(1.00)
1
(1.00)
0.193
(1.00)
OR4A15 13 (5%) 235 0.213
(1.00)
0.167
(1.00)
0.00219
(1.00)
1
(1.00)
0.756
(1.00)
CABP1 8 (3%) 240 0.319
(1.00)
0.285
(1.00)
0.809
(1.00)
0.719
(1.00)
0.452
(1.00)
TXNDC8 6 (2%) 242 0.439
(1.00)
0.46
(1.00)
0.32
(1.00)
0.667
(1.00)
1
(1.00)
FAM122A 6 (2%) 242 0.599
(1.00)
0.936
(1.00)
0.228
(1.00)
0.415
(1.00)
0.667
(1.00)
OR5AS1 10 (4%) 238 0.675
(1.00)
0.503
(1.00)
0.396
(1.00)
0.501
(1.00)
0.732
(1.00)
ZNF334 17 (7%) 231 0.95
(1.00)
0.0232
(1.00)
0.787
(1.00)
1
(1.00)
0.415
(1.00)
C12ORF4 13 (5%) 235 0.287
(1.00)
0.169
(1.00)
0.00259
(1.00)
1
(1.00)
0.756
(1.00)
GNB2 6 (2%) 242 0.556
(1.00)
0.388
(1.00)
0.228
(1.00)
0.667
(1.00)
1
(1.00)
CABLES1 6 (2%) 242 0.425
(1.00)
0.11
(1.00)
0.897
(1.00)
1
(1.00)
1
(1.00)
KLHL8 12 (5%) 236 0.362
(1.00)
0.504
(1.00)
0.404
(1.00)
1
(1.00)
1
(1.00)
LOC642587 7 (3%) 241 0.679
(1.00)
0.548
(1.00)
0.294
(1.00)
1
(1.00)
0.677
(1.00)
RAB3GAP1 16 (6%) 232 0.98
(1.00)
0.596
(1.00)
0.35
(1.00)
1
(1.00)
0.773
(1.00)
PAPD4 13 (5%) 235 0.982
(1.00)
0.181
(1.00)
0.962
(1.00)
0.378
(1.00)
0.0492
(1.00)
DAPP1 8 (3%) 240 0.568
(1.00)
0.462
(1.00)
0.343
(1.00)
0.719
(1.00)
0.688
(1.00)
DST 39 (16%) 209 0.467
(1.00)
0.655
(1.00)
0.301
(1.00)
0.464
(1.00)
0.563
(1.00)
HHIPL1 6 (2%) 242 0.679
(1.00)
0.892
(1.00)
0.32
(1.00)
0.415
(1.00)
0.667
(1.00)
LUC7L2 8 (3%) 240 0.332
(1.00)
0.728
(1.00)
0.343
(1.00)
0.27
(1.00)
0.452
(1.00)
MAP3K1 21 (8%) 227 0.0962
(1.00)
0.813
(1.00)
0.2
(1.00)
1
(1.00)
0.452
(1.00)
PPM1N 7 (3%) 241 0.355
(1.00)
0.79
(1.00)
0.294
(1.00)
1
(1.00)
1
(1.00)
ZNF879 13 (5%) 235 0.34
(1.00)
0.0926
(1.00)
0.4
(1.00)
1
(1.00)
1
(1.00)
TAF1 35 (14%) 213 0.231
(1.00)
0.837
(1.00)
0.0158
(1.00)
0.448
(1.00)
0.841
(1.00)
ZNF645 10 (4%) 238 0.353
(1.00)
0.879
(1.00)
0.0527
(1.00)
1
(1.00)
0.293
(1.00)
KCNH2 10 (4%) 238 0.432
(1.00)
0.597
(1.00)
0.338
(1.00)
0.0959
(1.00)
0.143
(1.00)
XPA 7 (3%) 241 0.169
(1.00)
0.9
(1.00)
0.981
(1.00)
0.236
(1.00)
0.092
(1.00)
ZNF449 12 (5%) 236 0.355
(1.00)
0.95
(1.00)
0.655
(1.00)
0.552
(1.00)
0.52
(1.00)
EDN1 4 (2%) 244 0.729
(1.00)
0.741
(1.00)
0.961
(1.00)
0.608
(1.00)
1
(1.00)
GIPC2 9 (4%) 239 0.851
(1.00)
0.042
(1.00)
0.376
(1.00)
0.497
(1.00)
0.709
(1.00)
C14ORF118 15 (6%) 233 0.268
(1.00)
0.0138
(1.00)
0.369
(1.00)
0.589
(1.00)
0.766
(1.00)
IGFN1 13 (5%) 235 0.713
(1.00)
0.307
(1.00)
0.296
(1.00)
0.378
(1.00)
0.756
(1.00)
BRS3 15 (6%) 233 0.184
(1.00)
0.133
(1.00)
0.025
(1.00)
0.4
(1.00)
0.766
(1.00)
TBC1D12 9 (4%) 239 0.479
(1.00)
0.604
(1.00)
0.759
(1.00)
1
(1.00)
1
(1.00)
NFE2L3 12 (5%) 236 0.336
(1.00)
0.656
(1.00)
0.342
(1.00)
0.115
(1.00)
0.741
(1.00)
G3BP2 9 (4%) 239 0.401
(1.00)
0.101
(1.00)
0.000879
(0.529)
0.497
(1.00)
0.709
(1.00)
RRAS2 4 (2%) 244 0.752
(1.00)
0.0717
(1.00)
0.961
(1.00)
0.608
(1.00)
0.0639
(1.00)
CLIC2 10 (4%) 238 0.294
(1.00)
0.855
(1.00)
0.00231
(1.00)
1
(1.00)
0.732
(1.00)
OPRK1 7 (3%) 241 0.594
(1.00)
0.542
(1.00)
0.856
(1.00)
0.694
(1.00)
0.677
(1.00)
HIST1H2BD 6 (2%) 242 0.0836
(1.00)
0.474
(1.00)
0.897
(1.00)
0.415
(1.00)
1
(1.00)
OR8B8 7 (3%) 241 0.524
(1.00)
0.0339
(1.00)
0.294
(1.00)
0.428
(1.00)
1
(1.00)
SHB 6 (2%) 242 0.484
(1.00)
0.716
(1.00)
0.996
(1.00)
1
(1.00)
0.667
(1.00)
SOS1 12 (5%) 236 0.301
(1.00)
0.0904
(1.00)
0.6
(1.00)
0.552
(1.00)
0.52
(1.00)
'PTEN MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 5.44e-19 (Chi-square test), Q value = 3.3e-16

Table S1.  Gene #2: 'PTEN MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
PTEN MUTATED 146 2 6 1 4 1 1
PTEN WILD-TYPE 36 1 2 1 1 3 43

Figure S1.  Get High-res Image Gene #2: 'PTEN MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

'CTNNB1 MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 1.04e-05 (Chi-square test), Q value = 0.0064

Table S2.  Gene #5: 'CTNNB1 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
CTNNB1 MUTATED 69 1 2 2 0 0 0
CTNNB1 WILD-TYPE 113 2 6 0 5 4 44

Figure S2.  Get High-res Image Gene #5: 'CTNNB1 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

'KRAS MUTATION STATUS' versus 'AGE'

P value = 0.000274 (t-test), Q value = 0.17

Table S3.  Gene #6: 'KRAS MUTATION STATUS' versus Clinical Feature #2: 'AGE'

nPatients Mean (Std.Dev)
ALL 248 63.1 (11.1)
KRAS MUTATED 53 58.8 (8.7)
KRAS WILD-TYPE 195 64.3 (11.4)

Figure S3.  Get High-res Image Gene #6: 'KRAS MUTATION STATUS' versus Clinical Feature #2: 'AGE'

'TP53 MUTATION STATUS' versus 'AGE'

P value = 6.15e-06 (t-test), Q value = 0.0038

Table S4.  Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #2: 'AGE'

nPatients Mean (Std.Dev)
ALL 248 63.1 (11.1)
TP53 MUTATED 69 67.9 (9.4)
TP53 WILD-TYPE 179 61.3 (11.2)

Figure S4.  Get High-res Image Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #2: 'AGE'

'TP53 MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 3.98e-23 (Chi-square test), Q value = 2.4e-20

Table S5.  Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
TP53 MUTATED 23 0 0 0 4 3 39
TP53 WILD-TYPE 159 3 8 2 1 1 5

Figure S5.  Get High-res Image Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

'TP53 MUTATION STATUS' versus 'NEOADJUVANT.THERAPY'

P value = 6.08e-05 (Fisher's exact test), Q value = 0.037

Table S6.  Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #5: 'NEOADJUVANT.THERAPY'

nPatients NO YES
ALL 68 180
TP53 MUTATED 32 37
TP53 WILD-TYPE 36 143

Figure S6.  Get High-res Image Gene #11: 'TP53 MUTATION STATUS' versus Clinical Feature #5: 'NEOADJUVANT.THERAPY'

'SAP30 MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 1.34e-08 (Chi-square test), Q value = 8.2e-06

Table S7.  Gene #55: 'SAP30 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
SAP30 MUTATED 2 0 0 0 2 0 0
SAP30 WILD-TYPE 180 3 8 2 3 4 44

Figure S7.  Get High-res Image Gene #55: 'SAP30 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

'ZNF69 MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 0.000147 (Chi-square test), Q value = 0.089

Table S8.  Gene #89: 'ZNF69 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
ZNF69 MUTATED 5 0 0 0 2 0 0
ZNF69 WILD-TYPE 177 3 8 2 3 4 44

Figure S8.  Get High-res Image Gene #89: 'ZNF69 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

'ANKRD31 MUTATION STATUS' versus 'HISTOLOGICAL.TYPE'

P value = 4.87e-05 (Chi-square test), Q value = 0.03

Table S9.  Gene #96: 'ANKRD31 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

nPatients ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1 OR 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 1) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 2) ENDOMETRIOID ENDOMETRIAL ADENOCARCINOMA (GRADE 3) MIXED SEROUS AND ENDOMETRIOID SEROUS ENDOMETRIAL ADENOCARCINOMA
ALL 182 3 8 2 5 4 44
ANKRD31 MUTATED 12 1 1 0 3 0 0
ANKRD31 WILD-TYPE 170 2 7 2 2 4 44

Figure S9.  Get High-res Image Gene #96: 'ANKRD31 MUTATION STATUS' versus Clinical Feature #3: 'HISTOLOGICAL.TYPE'

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

  • Clinical data file = UCEC.clin.merged.picked.txt

  • Number of patients = 248

  • Number of significantly mutated genes = 123

  • Number of selected clinical features = 5

  • 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

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

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.

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] Greenwood and Nikulin, A guide to chi-squared testing, Wiley, New York. ISBN 047155779X (1996)
[4] 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)
[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)