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.
This Week in the Journal of Clinical Pathology
Researchers led by Taipei Veterans General Hospital's Jun-Yi Chen report in the Journal of Clinical Pathology that NCAM expression in well-differentiated thyroid carcinoma is associated with an increased risk of distant metastasis. The researchers analyzed 214 well-differentiated thyroid carcinomas, of which 68 were associated a distant metastasis for NCAM and OCIAD1 expression status. The researchers found no link between OCIAD1 and distant metastasis, while "both follicular and papillary carcinomas with distant metastasis had a significantly higher frequency of preserving NCAM expression," they write.
Also in the Journal of Clinical Pathology, Ospedale Niguarda Ca' Granda's Andrea Sartore-Bianchi and colleagues examine the reproducibility of EGFR copy-number evaluation by fluorescence in situ hybridization at different labs. The researchers sent 12 colorectal cancer samples to five molecular diagnostic reference centers to assess consensus among the labs, and found that the results varied "with fluctuations covering the whole range of proposed cut-offs of predictive usefulness from literature," they write. "Definition of a detailed scoring system and implementation of comprehensive training programmes for laboratories are therefore necessary before including the test into clinical practice."