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Cancer Survival Linked to Mutational Burden in Pan-Cancer Analysis

In JCO Precision Oncology, researchers from Vanderbilt University Medical Center and the Tennessee Valley Healthcare System Veteran's Administration highlight cancer survival predictions that are possible with tumor somatic mutation profiles across cancer types. Using genomic and clinical data for more than 10,600 cancer cases spanning 32 cancer types, the team assessed the prognostic potential of short substitutions or small insertions and deletions, copy number changes, or gene fusions, as well as the overall tumor mutational burden, compared to the prognostic performance of other features ranging from tumor stage or grade to cancer type. In their pan-cancer analysis, the authors found that short mutations/indels and copy number alterations were independently linked to patient survival, providing survival information beyond that available from traditional prognostic factors. "Cancer type, macroscopic anatomic staging, and a microscopic histological grade are clinical metrics routinely used to predict outcome," they explain. "This study has revealed that molecular mutation burden is an important predictor of survival outcome that is independent of these factors. This relationship can meaningfully impact clinical trial design and patient care."

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.