Breast Invasive Carcinoma: Mutation Analysis (MutSig)
Maintained by Dan DiCara (Broad Institute)
Overview
Introduction

This report serves to describe the mutational landscape and properties of a given individual set, as well as rank genes and genesets according to mutational significance. MutSig vS2N was used to generate the results found in this report.

  • Working with individual set: BRCA

Input

The input for this pipeline is a set of individuals with the following files associated for each:

  1. An annotated .maf file describing the mutations called for the respective individual, and their properties.

  2. A .wig file that contains information about the coverage of the sample.

Summary
Results
Significantly Mutated Genes

Column Descriptions:

  • N = number of sequenced bases in this gene across the individual set

  • nnon = number of (nonsilent) mutations in this gene across the individual set

  • nnull = number of (nonsilent) null mutations in this gene across the individual set

  • nflank = number of noncoding mutations from this gene's flanking region, across the individual set

  • nsil = number of silent mutations in this gene across the individual set

  • p = p-value (overall)

  • q = q-value, False Discovery Rate (Benjamini-Hochberg procedure)

Table 1.  Get Full Table A Ranked List of Significantly Mutated Genes. Number of significant genes found: 83. Number of genes displayed: 35. Click on a gene name to display its stick figure depicting the distribution of mutations and mutation types across the chosen gene (this feature may not be available for all significant genes).

gene N nflank nsil nnon nnull p q
PIK3CA 214718 0 3 205 8 0 0
ZNF841 1064 0 0 7 2 0 0
ANKRD30B 964 0 3 6 1 0 0
GATA3 58646 0 1 58 53 0 0
TP53 64260 0 3 192 76 0 0
PTEN 82086 0 0 18 13 0 0
CDH1 148920 0 1 33 29 6.8e-159 1.8e-155
RUNX1 52534 0 1 18 12 2.9e-133 6.9e-130
TBL1XR1 79548 0 0 10 8 1.1e-112 2.3e-109
MAP3K1 236648 0 3 64 55 7e-111 1.3e-107
MAP2K4 71404 0 0 22 14 1.1e-97 1.9e-94
ZNF90 832 0 0 4 1 1.8e-66 2.9e-63
DNAH6 82146 0 3 11 1 1.3e-47 1.9e-44
FAM75C1 1340 0 2 4 0 1.3e-43 1.8e-40
RGPD3 1676 0 2 4 1 1.5e-35 1.9e-32
EYS 114754 0 0 11 1 4.2e-31 4.9e-28
MLL3 824694 0 2 37 23 3.8e-30 4.2e-27
CDKN1B 30604 0 0 5 5 3.3e-28 3.5e-25
NCOR1 402398 0 1 18 15 1.4e-26 1.4e-23
TBX3 73938 0 0 13 10 5.8e-26 5.5e-23
CBFB 28568 0 1 8 3 6.1e-21 5.5e-18
SF3B1 231544 0 0 10 1 4.4e-19 3.8e-16
RTL1 27250 0 0 5 0 2.9e-18 2.4e-15
PTPN22 160144 0 0 8 0 5.4e-18 4.2e-15
DNAH12 88748 0 0 7 0 1.4e-16 1.1e-13
HIST1H3B 20400 0 0 5 2 1.1e-15 8.3e-13
PIK3R1 150454 0 1 14 9 1.4e-15 9.9e-13
SAAL1 88230 0 0 6 5 1.2e-13 8.2e-11
CTCF 129540 0 2 13 7 2.9e-12 1.9e-09
MLLT10 172882 0 0 8 5 1.7e-11 1.1e-08
SARM1 59654 0 0 5 5 5.3e-11 3.2e-08
ANK3 804278 0 0 12 0 4.4e-09 2.6e-06
GPS2 58140 0 1 6 6 8.5e-09 4.8e-06
WNK3 310052 0 1 8 0 9.7e-09 5.4e-06
NF1 761470 0 0 16 9 1.5e-08 7.9e-06
Methods & Data
Methods

In brief, we tabulate the number of mutations and the number of covered bases for each gene. The counts are broken down by mutation context category: four context categories that are discovered by MutSig, and one for indel and 'null' mutations, which include indels, nonsense mutations, splice-site mutations, and non-stop (read-through) mutations. For each gene, we calculate the probability of seeing the observed constellation of mutations, i.e. the product P1 x P2 x ... x Pm, or a more extreme one, given the background mutation rates calculated across the dataset. [1]

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] TCGA, Integrated genomic analyses of ovarian carcinoma, Nature 474:609 - 615 (2011)