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Study Sets Tumor-First BRCA Testing Against Germline-Guided Strategy in Ovarian Cancer

In JCO Precision Oncology, University of British Columbia and BC Cancer researchers explore testing strategies for uncovering pathogenic or likely pathogenic BRCA1 or BRCA2 gene variants in ovarian cancer patients — results that can help guide the use of PARP inhibitor drugs such as olaparib. The team compared the so-called "ASCO strategy" — an American Society of Clinical Oncology-recommended approach that involves germline testing on BRCA1/2 and other risk genes followed by somatic testing in cases without inherited pathogenic variants — with tumor-first "triage" approach to testing for BRCA1/2 alterations. The team's modeling analyses suggest that tumor-first testing is more cost-effective, though the germline- and tumor-based approach would be expected to uncover more pathogenic variants when large numbers of epithelial ovarian cancer patients are tested each year. Overall, the authors conclude that "the strategy of germline testing first, followed by tumor testing … has the potential to identify the highest number of individuals with BRCA [pathogenic variants]," though "this is not a cost-effective strategy, and it relies on a high proportion of patients with ovarian cancer having germline testing at initial diagnosis.

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.