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.
At SABCS, Presentations Highlight Ongoing Issues with Tamoxifen PGx
Although the studies presented at the San Antonio Breast Cancer Symposium did not resolve questions about the role of CYP2D6 genotypes or myriad other factors contributing to variability in tamoxifen metabolism, an oncologist at the Mayo Clinic offered some recommendations as to the types of studies that will be necessary to fill knowledge gaps in the field.
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