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Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma.

Paper Id
Walker BA,Wardell CP,Melchor L,Hulkki S,Potter NE,Johnson DC,Fenwick K,Kozarewa I,Gonzalez D,Lord CJ,Ashworth A,Davies FE and Morgan GJ
Haemato-Oncology Research Unit, Division of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom;
Blood 2012
We have used whole exome sequencing to compare a group of presentation t(4;14) with t(11;14) cases of myeloma in order to define the mutational landscape. Each case was characterized by a median of 24.5 exonic non-synonymous SNVs and there was a consistently higher number of mutations in the t(4;14) group, but this did not reach statistical significance. We show that the transition/transversion rate in the two subgroups is similar suggesting that there was no specific mechanism leading to mutation differentiating the two groups. Only 3% of mutations were seen in both groups and recurrently mutated genes include NRAS, KRAS, BRAF and DIS3 as well as DNAH5, a member of the axonemal dynein family. The pattern of mutation in each group was distinct with the t(4;14) group being characterized by deregulation of chromatin organization, actin filament and microfilament movement. Recurrent RAS pathway mutations identified subclonal heterogeneity at a mutational level in both groups with mutations being present as either dominant or minor subclones. The presence of subclonal diversity was confirmed at a single cell level using other tumor acquired mutations. These results are consistent with a distinct molecular pathogenesis underlying each subgroup and have important impacts on targeted treatment strategies. The MRC Myeloma IX trial is registered at under ISRCTN68454111.
Paper Status
Genes Analysed
Mutated Samples
Total No. of Samples
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Genes Samples CDS Mutation AA Mutation
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Non-Mutant Genes Gene Id (COSG)
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Non-Mutant Samples Sample Id (COSS)
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Sample Name Mutation Count
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
This tab shows the copy number variation data for this study. Only variants (classified as gain or loss) are listed. [more details]
CNV Gene Sample Position Minor Allele Copy Number Average Ploidy

1. N/A represents cases where average ploidy value is not available( mostly ICGC samples). For some TCGA samples where minor allele information is not available the average ploidy value could not be calculated.

2. For TCGA samples, Ascat algorithm is used to calculate the average ploidy.

3. For CGP samples, Picnic algorithm is used to calculate the average ploidy.

This tab shows a table of count of samples having gain or loss for all genes [more details]
Gene Gain Samples Loss Samples Samples Tested
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