Overview

This section shows a general overview of information for the selected study (COSU identifier) or publication (COSP identifier). Studies may have been performed by the Sanger Institute Cancer Genome Project, or imported from the ICGC/TCGA. You can see more information on the help pages.

Reference: Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.
Paper ID: COSP42048
Authors: Walz AL, Ooms A, Gadd S, Gerhard DS, Smith MA, Guidry Auvil JM, Guidry Auvil JM, Meerzaman D, Chen QR, Hsu CH, Yan C, Nguyen C, Hu Y, Bowlby R, Brooks D, Ma Y, Mungall AJ, Moore RA, Schein J, Marra MA, Huff V, Dome JS, Chi YY, Mullighan CG, Ma J, Wheeler DA, Hampton OA, Jafari N, Ross N, Gastier-Foster JM and Perlman EJ
Affiliation: Division of Hematology-Oncology and Transplantation, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University's Feinberg School of Medicine, Chicago, IL 60611, USA.
Journal: Cancer cell, 2015;27(2):286-97
ISSN: 1878-3686
PMID: 25670082 (view at PubMed or Europe PMC)
Abstract: We report the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors (FHWTs) to occur within SIX1/2 (7% of 534 tumors) and microRNA processing genes (miRNAPGs) DGCR8 and DROSHA (15% of 534 tumors). Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations. Significantly decreased expression of mature Let-7a and the miR-200 family (responsible for mesenchymal-to-epithelial transition) in miRNAPG mutant tumors is associated with an undifferentiated blastemal histology. The combination of SIX and miRNAPG mutations in the same tumor is associated with evidence of RAS activation and a higher rate of relapse and death.
Paper Status: Listed
Genes Analysed: 67
Mutated Samples: 0
Total No. of Samples: 0

Mutation Matrix

This section shows the correlation plot between the top 20 genes and samples. There is more information in our help pages.

Genes	Mutated Samples

Non-Mutant Genes	Gene Id (COSG)

Variants

Coding Mutations
Non-Coding Mutations
CNV & Expr
Methylation
Fusions

This tab shows genes with mutations in the selected study/paper [more details]

Genes	Samples	CDS Mutation	AA Mutation

This tab shows non coding variant in the selected study/paper [more details]

Sample ID	Sample Name	ID NCV	Annotation	Zygosity	Chromosome	Genome start	Genome stop	Genome version	Strand	WT seq	Mut seq	FATHMM-MKL

This tab shows the gene expression and copy number variation data for this study [more details]

Table Information

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The table currently shows only high value (numeric) copy number data. Copy number segments are excluded if the total copy number and minor allele values are unknown.

Click here to include all copy number data. For more detailed information about copy number data and gain/loss definitions click here.

Sample	Gene	Expression	Expr Level (Z-Score) Over Expressed; Z-Score > 2.0 Under Expressed; Z-Score < -2.0 Normal; Z-Score within the range -2.0 to 2.0	CN Type	Minor Allele	Copy Number	CN Segment Posn.	Average Ploidy 1. N/A represents cases where the average ploidy value is not available( mostly ICGC samples). For some TCGA samples where the minor allele information is not available the average ploidy value could not be calculated. 2. For TCGA samples, the ASCAT algorithm was used to calculate the average ploidy. 3. For CGP samples, the PICNIC algorithm was used to calculate the average ploidy.	CNV

This table lists the samples in the selected study which have low/high methylation for each gene. [more details]

No data

This tab shows the fusion mutations observed in this sample [more details]

Gene	Sample Name	Id Sample(COSS)	CDS Mutation	Somatic status	Zygosity	Validated	Type

Samples

Mutant Samples
Non-Mutant Samples

This table shows mutated samples in the selected study/paper.

Sample Name	Mutation Count

This table shows samples without mutations in the selected study/paper.

Non-Mutant Samples	Sample Id (COSS)

GRCh38 · COSMIC v92