In PLOS One, researchers from the US and Egypt searched for clues to familial breast cancer in Egyptian families. The team did exome sequencing on individuals from five Egyptian families that were prone to breast cancer. While the search didn't lead to verified pathogenic variants in documented cancer risk genes, the results revealed a wide range of suspicious variants, suggesting some alleles associated with cancer may be distinct in the population. "Our study demonstrates that genetic predisposition in Egyptian breast cancer families may differ from those in other disease populations," the authors note, "and supports a comprehensive screening of local families to determine the genetic predisposition in Egyptian familial breast cancer."
An international team led by investigators in the UK and Canada describes mutations in the hyaluronidase 2 enzyme-coding gene that appear to contribute to cleft lip and palate congenital abnormalities. As they report in PLOS Genetics, the researchers used array-based SNP profiling and/or exome sequencing to search for suspicious mutations in individuals from Amish and Saudi Arabian families affected by cleft lip and palate. Their search uncovered HYAL2 mutations with apparent ties to both syndromic orofacial clefting and a rare congenital condition affecting the left atrium of the heart — findings they verified in mouse models missing the HYAL2 gene.
For a PLOS Neglected Tropical Diseases paper, researchers from Pasteur Institute sites in Côte d'Ivoire and France present results from a surveillance study focused on Yersinia strains at swine farms in an area around the city of Abidjan. The team tested nearly 800 samples collected between the spring of 2012 and the end of 2013 at 41 pig farms, uncovering a dozen strains from the pathogenic Y. enterocolitica serotype 4/O:3. The same Y. enterocolitica serotype turned up in two human cases when investigators considered hundreds of fecal samples from individuals treated for digestive problems. And genome sequencing on all 14 isolates indicated that a mutation-prone Y. enterocolitica strain circulating in pigs in the Côte d'Ivoire's Abidjan region.