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Breast Cancer Analysis Uncovers Age-Related Mutation Ties to Subtype, Outcomes

In Science Advances, researchers from the Sanford Burnham Prebys Medical Discovery Institute and other centers consider the consequences of cell cycle checkpoint kinase gene disruptions across breast cancer subtypes. Using data for primary or metastatic breast cancer patients from half a dozen studies — including the Cancer Genome Atlas project, the International Cancer Genome Consortium, and other breast cancer-centered or pan-cancer research efforts — the team tallied somatic and germline mutation frequencies for four cell cycle checkpoint kinase genes, uncovering ties between specific gene mutations, breast cancer subtypes, and prognostic patterns. In particular, the authors flagged distinct gene mutations corresponding with the development or progression of ER-positive/HER2-negative breast cancer in pre- or post-menopausal women, along with alterations that coincided with advanced, treatment-resistant forms of the ER-positive/HER2-positive subtype in younger women alone. "Overall, this systematic analysis of the association of individual cell cycle checkpoint kinase genes with clinically relevant tumor characteristics and breast cancer patient outcome suggests that knowledge of the mode of cell cycle dysregulation during tumorigenesis can be effectively leveraged to improve characterization of cancer subtypes," the authors report, noting that "the four cell cycle checkpoint kinases described here are not the only modulators of the cell cycle or of DNA damage response."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.