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Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

A Memorial Sloan Kettering Cancer Center-led team describes hereditary cancer predisposition variants found with expanded genetic testing on cancer patients for a paper in Genome Medicine. Based on expanded genetic testing profiles for more than 17,500 cancer patients profiled with tumor-normal germline testing with the MSK-IMPACT sequencing pipeline from mid-2015 to the spring of 2020, the researchers identified pathogenic or likely pathogenic variants in almost 17 percent of the patients. When they dug into the data for almost 9,200 patients with breast, ovarian, pancreatic, prostate, or colorectal cancers, they tracked down suspicious hereditary cancer gene variants in close to one-quarter of ovarian cancer patients and more than 15 percent of colorectal cancer patients, with diagnostic yields falling in between for patients with the remaining three common cancer types. These and other findings suggest that expanded genetic testing "can identify hereditary cancer predisposition in patients with a broad range of solid tumors, which would not have been detected by current guideline-based [genetic testing] models, including findings that indicate a high risk to develop other cancers in the future," the authors report, adding that the expanded genetic testing approach "can allow increased opportunities for cancer surveillance and  intervention for patients and their at-risk family members, as compared to traditional targeted gene panel testing approaches."

The Scan

Open Pediatric Brain Tumor Atlas Team Introduces Genomic Data Collection, Analytical Tools

A study in Cell Genomics outlines open-source methods being used to analyze and translate whole-genome, exome, and RNA sequence data from the Pediatric Brain Tumor Atlas.

Neurological Outcomes Linked to Innate Immune Features After Cardiac Arrest

Researchers reporting in Med dig into immune features found a few hours after cardiac arrest that correspond with neurological outcomes.

Mouse Study Finds Circadian Rhythm-Related Gene Expression Changes Linked to Sleep Apnea

A paper in PLOS Biology reveals tissue-specific circadian rhythm and gene expression patterns in an intermittent hypoxia-based mouse model of obstructive sleep apnea.

Polygenic Risk Score to Predict Preeclampsia, Gestational Hypertension in Pregnant Women

Researchers in Nature Medicine provide new mechanistic insights into the development of hypertensive disorders of pregnancy, which may help develop therapeutics.