Researchers from the Broad Institute have completed sequencing multiple myeloma tumor samples from 38 patients, including 23 whole genomes and 19 whole exomes, as part of the Multiple Myeloma Research Consortium Genomics Initiative, funded by the Multiple Myeloma Foundation.
Todd Golub, director of the Broad Institute's cancer research program, presented initial results of the sequencing study at the American Association for Cancer Research meeting last week, as reported by In Sequence sister publication GenomeWeb Daily News.
The results represent the first findings for the MMRC Genomics Initiative, which kicked off last year and aims to initially sequence 50 tumors from patients, and then sequence relevant targets in 200 more samples (IS 5/19/2009).
The collaboration includes researchers from the Broad Institute, the Translational Genomics Institute, and the Mayo Clinic. The MMRF, which is funding the project and providing the tissue samples, said last year that it had invested nearly $10 million in the project.
As GWDN reported, members of the consortium sequenced 23 whole tumor genomes to an average coverage of 32-fold and 16 whole tumor exomes to an average coverage of 105-fold. One patient had both his whole genome and exome sequenced, and researchers also sequenced matched peripheral blood samples from each patient.
The researchers identified an average of 30 non-silent point mutations per tumor and validated 87 out of 92 by genotyping. Additionally, the team identified mutations in four genes that have previously been implicated in the disease. They also found one gene that was mutated in four different patients.
According to a statement, the analysis "revealed intriguing recurrent mutations that point to important cellular pathways which contribute to multiple myeloma."
Additionally, researchers from TGen presented data at AACR on their analysis of copy number changes in multiple myeloma as part of the project. They used array-based comparative genomic hybridization and gene expression profiling to evaluate copy number changes in over a dozen African American and 200 Caucasian patients. They found that African American individuals are more likely to have tumors with a specific deletion that has been previously linked to the disease.