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This Week in PLOS : Apr 23, 2018

In PLOS Genetics, researchers from Portugal describe their search for new genes associated with early onset or hereditary prostate cancer risk. The team did targeted sequencing on 94 suspected cancer genes in 121 individuals with prostate cancer, uncovering truncations and/or functionally deleterious mutations in two genes already implicated in prostate cancer and five new candidate genes. Based on that analysis — coupled with in silico pathogenicity predictions in 18 cancer risk genes genotyped in hundreds of cancer-free controls — the investigators narrowed in on variants most apt to contribute to hereditary prostate cancer risk, which turned up in almost 15 percent of the 121 prostate cancer cases considered.

A team from Utrecht University, Eritrea, South Africa, and elsewhere characterize genetic patterns in more than a dozen Mycobacterium bovis isolates from Eritrean cattle for a paper in PLOS Neglected Tropical Diseases. Using a combination of whole-genome sequencing, spoligotyping, and variable number tandem repeat profiling, the researchers tested suspected tuberculosis lesions from 14 cattle at an Eritrean slaughterhouse, identifying 14 bovine TB strains that fell into six VNTR clusters and three spoligotypes. Their subsequent phylogenetic analyses of these and other isolates pointed to a shared European common ancestor for Eritrean bovine TB, which appears to have been introduced to the Eritrea in two distinct events.

Finally, a University of California, Irvine-led team takes a look at plasma metabolomic patterns with potential ties to acute mild traumatic brain injury for a paper appearing in PLOS One. With the help of tandem mass spectrometry, the researchers tested a six-metabolite panel in college athletes with or without apparent mild traumatic brain injury. During the first six hours after this injury, and again after two, three, or seven days, the plasma metabolites appeared capable of classifying mild traumatic brain injury cases and unaffected teammate controls, they report. "If confirmed by others, through larger replication studies, our plasma biomarkers may provide a basis for considering targeted metabolomic assays for [mild traumatic brain injury] screening and post-injury monitoring in future civilian and military clinical investigations," they write.

The Scan

Breast Cancer Risk Related to Pathogenic BRCA1 Mutation May Be Modified by Repeats

Several variable number tandem repeats appear to impact breast cancer risk and age at diagnosis in almost 350 individuals carrying a risky Ashkenazi Jewish BRCA1 founder mutation.

Study Explores Animated Digital Message Approach to Communicate Genetic Test Results to Family Members

In the Journal of Genetic Counseling, the approach showed promise in participants presented with a hypothetical scenario related to a familial hereditary breast and ovarian cancer syndrome diagnosis.

Computational Tool Predicts Mammalian Messenger RNA Degradation Rates

A tool called Saluki, trained with mouse and human messenger RNA data, appears to improve mRNA half-life predictions by taking RNA and genetic features into account, a Genome Biology paper reports.

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.