Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Assay for Aggressive Lung Cancer
University of California, San Francisco researchers have developed a gene test that may predict which lung cancers will be aggressive, reports the San Francisco Chronicle. The researchers, led by David Jablons, report in the Lancet on their quantitative PCR-based, 14-gene expression assay, which was developed in conjunction with Pinpoint Genomics. "The assay improved prognostic accuracy beyond National Comprehensive Cancer Network criteria for stage I high-risk tumours (p<0.0001), and differentiated low-risk, intermediate-risk, and high-risk patients within all disease stages," the authors write in the Lancet.
"There really hasn't been a tool to more clearly identify the patients who have the more difficult biology," David Berryman, Pinpoint's CEO, tells the Chronicle. "The key to it is to really hone in on a specific set of genes that would be a prognosticator of progression or more aggressive disease."