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This Week in BMC Cancer: Jun 1, 2011

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National Cancer Institute researchers and their colleagues report online in BMC Cancer that they used a comprehensive gene candidate approach to find genetic variants associated with osteosarcoma. The researchers hypothesized that DNA repair and ribosomal function-related genes could be involved in osteosarcoma pathogenesis, and, as such, they set about to determin whether variants in genes in bone formation, DNA repair, growth/hormone, and ribosomal pathways had a role in the disease. The researchers found 12 SNPs in growth or DNA repair genes that were significantly associated with osteosarcoma while four SNPs in a DNA repair gene and two SNPs downstream of a growth hormone gene were significantly associated. "Our results suggest that several SNPs in biologically plausible pathways are associated with OS. Larger studies are required to confirm our findings," the researchers conclude.

Peter Hersey and his colleagues at the University of Newcastle in Australia say that an aberrant function of P53 may contribute to melanoma. Hersey and his team used whole genome bead arrays to determine the expression levels of P53 target genes in 82 melanoma metastases, six melanoma cell lines, and extracts from diploid human melanocytes and fibroblasts. The authors write that their results show that "P53 target transcripts involved in apoptosis were under-expressed in melanoma metastases and melanoma cell lines, while those involved in the cell cycle were over-expressed in melanoma cell lines."

The Scan

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.

Coronary Artery Disease Risk Loci, Candidate Genes Identified in GWAS Meta-Analysis

A GWAS in Nature Genetics of nearly 1.4 million coronary artery disease cases and controls focused in on more than 200 candidate causal genes, including the cell motility-related myosin gene MYO9B.

Multiple Sclerosis Contributors Found in Proteome-Wide Association Study

With a combination of genome-wide association and brain proteome data, researchers in the Annals of Clinical and Translational Neurology tracked down dozens of potential multiple sclerosis risk proteins.

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.