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.
Searching for the Origin
An article in the New York Times discusses cancers of unknown primary origins and recently developed genetic tests that may identify where in the body those mystery tumors are coming from -- not knowing the original tissue hampers treatment since many cancer therapies are tailored to combat one sort of cancer. Four genetic tests are trying to help identify the origin of these cancers -- Pathwork Diagnostics' Tissue of Origin test, BioTheranostics' CancerType ID, Agendia's CupPrint, and Rosetta Genomics' MiRview Mets test -- but with mixed results. A recent study showed Agendia's test could accurately classify 83 percent of known samples but only 64 percent of unknown ones. "We try to ask ourselves, 'Is this information going to change the treatment we recommend for the patient?'" MD Anderson's James Abbruzzese says.