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Germline Testing of Colorectal Cancer Patients Uncovers High Rate of Clinically Actionable Genetic Variants

Expanding germline multigene panel testing to a broader group of colorectal cancer (CRC) patients could uncover additional individuals with clinically actionable genetic variants, a new study in JCO Precision Oncology has found. Researchers from the University of Pennsylvania and Invitae conducted a retrospective cohort study of adults with CRC who underwent multigene panel testing of more than 10 genes to determine the yield and clinical impact of testing on a large, diverse patient population. In their cohort of 34,244 individuals, 14.2 percent had a pathogenic or likely pathogenic variant and 11.9 percent had a clinically actionable pathogenic variant. Variants of uncertain significance were identified in 38.2 percent of patients and were more commonly found among Black, Asian, and Hispanic individuals. The researchers note that germline testing is generally limited to a portion of high-risk CRC patients but say that their finding of a high rate of pathogenic variants among a diverse population argues for broadening testing criteria. "Herein, we provide MGPT data from the largest cohort to date of patients with CRC, where we show that there are high rates of clinically actionable variants among patients with CRC, independent of the age at the time of testing, the number of genes on the panel, and race/ethnicity," the researchers write.

The Scan

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.

Sequencing Analysis Examines Gene Regulatory Networks of Honeybee Soldier, Forager Brains

Researchers in Nature Ecology & Evolution find structural network differences between soldiers and foragers, suggesting bees can take on either role.

Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

The study in Alzheimer's & Dementia highlighted known genes, but also novel ones with biological ties to Alzheimer's disease.

Tara Pacific Expedition Project Team Finds High Diversity Within Coral Reef Microbiome

In papers appearing in Nature Communications and elsewhere, the team reports on findings from the two-year excursion examining coral reefs.