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This Week in PNAS: Sep 9, 2014

In the early edition of the Proceedings of the National Academy of Sciences, researchers from Israel and the US report on results of a population-based screening effort aimed at estimating breast or ovarian cancer risk amongst BRCA1 or BRCA2 gene mutation carriers. The team started by screening healthy Ashkenazi Jewish men to narrow in on families prone to mutations in the two risk genes, before genotyping BRCA1 and BRCA2 mutations in female relatives from more than 100 families. Based on the breast and ovarian cancer frequencies identified in BRCA1 or BRCA2 mutation carriers, the study's authors found that "risks of breast and ovarian cancer for BRCA1 and BRCA2 mutation carriers ascertained from the general population are as high as for mutation carriers ascertained through personal or family history of cancer."

An international team led by investigators in the Netherlands took a genome-wide association study approach to finding common SNPs associated with educational attainment and cognitive performance. After identifying 69 SNPs with ties to education in a cohort of more than 100,000 individuals, the team tested the same set of variants in another 24,189 individuals, identifying three SNPs that also seemed to have links to cognitive performance and cognitive health. Through testing on thousands more elderly individuals, the researchers also saw signs that at least some of the education-associated SNPs falling in a synaptic plasticity-related neurotransmitter pathway might also offer clues to cognitive health features such as memory.

In an effort to better understand type 2 diabetes, researchers from Sweden, Italy, and Switzerland shared findings from a genomic and transcriptomic study of pancreatic islet cells collected from dozens of deceased individuals with varying levels of glucose tolerance or resistance prior to their death. Using DNA and RNA sequence data for 89 such individuals, the team tracked down quantitative trait loci linked to gene expression and gene splicing patterns in human pancreatic islet cells and got a look at RNA editing profiles in this cell type. The study "provides new insights into the complexity of gene regulation in human pancreatic islets," its authors say, "and better understanding of how genetic variation can influence glucose metabolism."