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Researchers Classify Cancer-Relevant RAD51C Variants

For a paper appearing in PNAS this week, a team from Memorial Sloan Kettering Cancer Center, the University of Pittsburgh, University of Pennsylvania, and other centers characterize cancer-related mutations in the RAD51C tumor suppressor gene that lead to homologous recombination (HR) deficiency. "Mutations in homologous recombination (HR) genes, including BRCA1, BRCA2, and the RAD51 paralog RAD51C, predispose to tumorigenesis and sensitize cancer to DNA-damaging agents and poly(ADP ribose) polymerase [PARP] inhibitors," the researchers explain, noting that prior studies have flagged some 800 RAD51C variants of uncertain significance with potential ties to cancer risk or cancer treatment. When they used functional experiments, biochemical analyses, and structural modeling on more than 50 of these missense mutations, the authors saw signs that HR deficiency, altered RAD51C interactions, and enhanced PARP inhibitor sensitivity tended to occur when VUSs fell at conserved sites and/or in a so-called Walker A motif in the gene. "Ovarian cancer patients with mutations in this cluster had exceptional long-term survival," the authors write. "Our comprehensive analysis of RAD51C missense variants, including structural modeling of RAD51 paralog complexes, provides insight into RAD51C variant classification that should be valuable in assessing other RAD51 paralog variants."

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.