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HBOC Germline Test Analysis Highlights Core Gene Panel

In a paper appearing in the European Journal of Human Genetics, German researchers present findings from a retrospective hereditary breast and ovarian cancer (HBOC) germline testing analysis that focused on 6,941 individuals who met HBOC genetic testing criteria. Using Illumina panel sequence data, the team searched for risky germline variants in 123 cancer-related genes, uncovering pathogenic variants, likely pathogenic variant, or variants of uncertain significance in nearly 21 percent of the individuals tested. In the process, the authors flagged a core set of 14 HBOC risk genes, which they went on to compare to several nationally or internationally used gene panels that had diagnostic yields between 7.8 percent and 10.8 percent for finding pathogenic or likely pathogenic variants. "[W]e have structured the results in such a way that we can compare an internal 14-gene HBOC core panel with the alternative gene panels," they explain, noting that the results led to "other tumor risk syndromes (TRS) based on the underlying 123 gene backbone."

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 gene regulatory 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.