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DxS: Sep 19, 2007

DxS this week launched its B-RAF Mutation Detection Kit, which detects V600E, the most common mutation in the B-RAF oncogene. The V600E occurs in many types of cancer, including melanoma, colorectal, and lung cancer.
“Tumors with the V600E mutation are exquisitely sensitive to drugs that inhibit the MEK pathway; therefore, this assay is likely to be useful to investigate which patients will respond to these drugs,” DxS said in a statement. Pfizer, AstraZeneca, and Roche are some companies currently developing MEK inhibitor drugs.
According to DxS, the assay can detect less than 1 percent of mutants in a background of wild type genomic DNA and has a limit of detection of 5 copies or below.

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The Scan

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.

Estonian Biobank Team Digs into Results Return Strategies, Experiences

Researchers in the European Journal of Human Genetics outline a procedure developed for individual return of results for the population biobank, along with participant experiences conveyed in survey data.

Rare Recessive Disease Insights Found in Individual Genomes

Researchers predict in Genome Medicine cross-population deletions and autosomal recessive disease impacts by analyzing recurrent nonallelic homologous recombination-related deletions.

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.