Integrative_Oncogenomics_of_Multiple_Myeloma - EGA European Genome-Phenome Archive

Study

Integrative Oncogenomics of Multiple Myeloma

Study ID	Alternative Stable ID	Type
EGAS00001000036		Cancer Genomics

Study Description

Agilent whole exome hybridisation capture will be performed on genomic DNA derived from Multiple Myeloma patient DNA and matched normal DNA from the same patients. Two lanes of Illumina GA sequencing will be performed on the resulting exome libraries and mapped to build 37 of the human reference genome to facilitate the identification of novel cancer genes.

Study Datasets 3 datasets.

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Dataset ID	Description	Technology	Samples
EGAD00001000074	Integrative Oncogenomics of Multiple Myeloma Integrative Oncogenomics of Multiple Myeloma	Illumina Genome Analyzer II,Illumina HiSeq 2000	174
EGAD00001000339	Multiple myeloma is an incurable plasma cell malignancy whose molecular pathogenesis is incompletely understood. We used whole exome sequencing, copy number profiling and cytogenetic to analyses 84 samples from 67 patients with myeloma. In addition to known myeloma genes, we identify new candidate genes, including truncations of SP140, ROBO1 and FAT3 and clustered missense mutations in EGR1. We find oncogenic mutations in cancer genes not previously implicated in myeloma, including SF3B1, ... (Show More) Multiple myeloma is an incurable plasma cell malignancy whose molecular pathogenesis is incompletely understood. We used whole exome sequencing, copy number profiling and cytogenetic to analyses 84 samples from 67 patients with myeloma. In addition to known myeloma genes, we identify new candidate genes, including truncations of SP140, ROBO1 and FAT3 and clustered missense mutations in EGR1. We find oncogenic mutations in cancer genes not previously implicated in myeloma, including SF3B1, PI3KCA and PTEN. We define diverse processes contributing to the mutational repertoire, including kataegis and somatic hypermutation. Most cases have at least one cluster of subclonal variants, including subclonal driver mutations, implying on-going tumor ... (Read more)	Illumina Genome Analyzer II,Illumina HiSeq 2000	154
EGAD00010000395	Myeloma case sample genotype using Affymetrix SNP6.0 Myeloma case sample genotype using Affymetrix SNP6.0	Affymetrix_SNP6	19

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