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This Week in Cancer Discovery: Jan 20, 2012


This week in Cancer Discovery, researchers in the US and Canada report their study of mutations in the ATM gene in patients with hereditary pancreatic cancer. Using next-generation sequencing techniques, the team identified heterozygous, constitutional ATM gene mutations in patients with hereditary pancreatic cancer, and none in control participants. "When we considered only the mostly severely affected families with three or more pancreatic cancer cases, four deleterious mutations were found in 87 families," the authors write. "Our results indicate that inherited ATM mutations play an important role in familial pancreatic cancer predisposition."

Also in Cancer Discovery this week, researchers at Memorial Sloan-Kettering Cancer Center in New York assess the genomic complexity of serous ovarian cancer. The team performed genetic and functional analyses of ovarian cancer cell lines and tumors, and found that although PI3K pathway alterations were common in both, they differed in the variety of mutations they carried. "Genetic activation of the pathway was necessary, but not sufficient, to confer sensitivity to selective inhibition of AKT and cells with RAS pathway alterations or RB1 loss were resistant to AKT inhibition, whether or not they had coexistent PI3K/AKT pathway activation," the authors write. "Inhibition of AKT1 caused growth arrest in a subset of ovarian cell lines, but not in those with AKT3 expression, which required pan-AKT inhibition." Therefore, the team adds, while there is a subset of ovarian cancers treatable with AKT inhibitors, a detailed molecular analysis of each patient's tumor would be needed to know if the treatment would be efficacious, given the disease's heterogeneity.

Finally in Cancer Discovery this week, researchers at the Dana-Farber Cancer Institute and the Broad Institute report their use of targeted, massively parallel sequencing to achieve high-throughput detection of actionable genomic alterations in FFPE tumor samples. The team was able to detect single-nucleotide sequence variants, small insertions and deletions, and chromosomal copy-number alterations with higher accuracy than other methods currently in use in the clinic. "Putatively actionable genomic alterations, including those that predict sensitivity or resistance to established and experimental therapies, were detected in each tumor sample tested," the authors write. "Thus, targeted deep sequencing of clinical tumor material may enable mutation-driven clinical trials and, ultimately, 'personalized' cancer treatment."

The Scan

More Boosters for US

Following US Food and Drug Administration authorization, the Centers for Disease Control and Prevention has endorsed booster doses of the Moderna and Johnson & Johnson SARS-CoV-2 vaccines, the Washington Post writes.

From a Pig

A genetically modified pig kidney was transplanted into a human without triggering an immune response, Reuters reports.

For Privacy's Sake

Wired reports that more US states are passing genetic privacy laws.

Science Paper on How Poaching Drove Evolution in African Elephants

In Science this week: poaching has led to the rapid evolution of tuskless African elephants.