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This Week in PNAS: Oct 11, 2016

In the early, online edition of the Proceedings of the National Academy of Sciences, a team from the US, Italy, and Korea considers mutation patterns in uterine and ovarian carcinosarcomas. Using exome sequencing, the researchers profiled mutational patterns in samples from 44 individuals with uterine carcinosarcoma and 24 individuals with ovarian carcinosarcoma, identifying recurrent mutations in known cancer contributors such as TP53, PIK3CA, and KRAS as well as alterations affecting the histone genes H2A and H2B. For half a dozen tumors, the authors turned to multi-region exome sequencing to investigate the evolutionary history of the carcinoma- and sarcoma-like sections of the tumors. "Comparison of the phylogenetic relationships of carcinomatous and sarcomatous elements of the same tumors demonstrated separate lineages leading to these two components," they write.

Researchers from the UK explore the consequences of Notch gene expression in cholangiocarcinoma, a primary liver cancer that typically has poor outcomes. The team did quantitative RT-PCR on matched tumor and normal samples from dozens of individuals with cholangiocarcinoma, uncovering enhanced NOTCH3 expression in the tumor samples. Follow-up experiments in rat and transgenic mouse models of cholangiocarcinoma hinted that cholangiocarcinoma development is marked by elevated activity of an atypical Notch3 receptors, corresponding to activation of the PI3 kinase-Akt pathway.

Finally, a team from the J. Craig Venter Institute and Human Longevity presents variant patterns detected in relatively deep genome sequences for 10,545 individuals, representing African, Asian, European, and admixed populations around the world. From these data, the researchers identified more than 150 million single nucleotide variants, including new variants and more than 95 percent of variants previously implicated in human disease pathogenesis. On average, each additional genome that was sequenced contained almost new 8,600 variants, they note. GenomeWeb has more on the study, here.