Skin Cutaneous Melanoma: Correlation between gene mutation status and selected clinical features
(All_Primary cohort)
Maintained by TCGA GDAC Team (Broad Institute/MD Anderson Cancer Center/Harvard Medical School)
Overview
Introduction

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

Summary

Testing the association between mutation status of 15 genes and 7 clinical features across 23 patients, no significant finding detected with Q value < 0.25.

  • No gene mutations related to clinical features.

Results
Overview of the results

Table 1.  Get Full Table Overview of the association between mutation status of 15 genes and 7 clinical features. Shown in the table are P values (Q values). Thresholded by Q value < 0.25, no significant finding detected.

Clinical
Features
Time
to
Death
AGE PRIMARY
SITE
OF
DISEASE
GENDER LYMPH
NODE
METASTASIS
TUMOR
STAGECODE
NEOPLASM
DISEASESTAGE
nMutated (%) nWild-Type logrank test t-test Fisher's exact test Fisher's exact test Chi-square test t-test Chi-square test
BRAF 16 (70%) 7 0.547
(1.00)
0.447
(1.00)
0.352
(1.00)
0.626
(1.00)
0.302
(1.00)
0.681
(1.00)
NRAS 3 (13%) 20 0.453
(1.00)
1
(1.00)
PRB2 4 (17%) 19 0.368
(1.00)
1
(1.00)
0.557
(1.00)
0.343
(1.00)
0.156
(1.00)
FAM135B 6 (26%) 17 0.722
(1.00)
0.00415
(0.311)
1
(1.00)
0.621
(1.00)
0.697
(1.00)
0.469
(1.00)
PTEN 4 (17%) 19 0.0828
(1.00)
0.696
(1.00)
0.125
(1.00)
1
(1.00)
0.343
(1.00)
0.961
(1.00)
TLL1 6 (26%) 17 0.0828
(1.00)
0.0736
(1.00)
1
(1.00)
1
(1.00)
0.302
(1.00)
0.469
(1.00)
ARID2 4 (17%) 19 0.0828
(1.00)
0.37
(1.00)
1
(1.00)
0.273
(1.00)
0.343
(1.00)
0.961
(1.00)
ZFHX4 8 (35%) 15 0.547
(1.00)
0.734
(1.00)
0.779
(1.00)
0.345
(1.00)
0.404
(1.00)
0.148
(1.00)
CFHR1 5 (22%) 18 0.404
(1.00)
0.302
(1.00)
1
(1.00)
0.272
(1.00)
0.959
(1.00)
0.29
(1.00)
OR52M1 3 (13%) 20 0.319
(1.00)
1
(1.00)
1
(1.00)
0.804
(1.00)
0.339
(1.00)
PPP6C 3 (13%) 20 0.453
(1.00)
1
(1.00)
RUNDC3B 3 (13%) 20 0.322
(1.00)
0.154
(1.00)
0.453
(1.00)
0.526
(1.00)
0.191
(1.00)
ADCYAP1R1 3 (13%) 20 0.0143
(1.00)
0.224
(1.00)
1
(1.00)
1
(1.00)
0.839
(1.00)
0.928
(1.00)
KCNC2 3 (13%) 20 0.453
(1.00)
0.209
(1.00)
PIK3R1 4 (17%) 19 0.913
(1.00)
0.754
(1.00)
1
(1.00)
0.557
(1.00)
0.0811
(1.00)
0.505
(1.00)
Methods & Data
Input
  • Mutation data file = SKCM-All_Primary.mutsig.cluster.txt

  • Clinical data file = SKCM-All_Primary.clin.merged.picked.txt

  • Number of patients = 23

  • Number of significantly mutated genes = 15

  • Number of selected clinical features = 7

  • 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)