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Blood DNA Methylation-Based Assay for Early Diagnosis of Breast Cancer

In a study in Nature Communication, researchers at Shandong University in China describe a new multiplex quantitative methylation-specific PCR-based assay to detect breast cancer from within blood samples called BC-mqmsPCR. For this study, the researchers analyzed genome-wide DNA methylation profiles of peripheral blood mononuclear cells from around 800 patients using Illumina's Infinium Human Methylation 850K BeadChip. They noted 289 differentially methylated CpG positions associated with breast cancer and selected four markers for their BC-mqmsPCR assay. In their analysis of 206 BC, 170 normal controls, and 125 other tumor samples, the assay outperformed the traditional tumor markers CA153, CA125, and CEA at diagnosing early-stage breast cancer and breast cancer tumors less than 1.5 centimeters in size. For instance, it could distinguish early-stage breast cancer patients from normal controls with an area under the curve of 0.940, a sensitivity of 93 percent, and a specificity of 90 percent. "BC-mqmsPCR can also identify tumors earlier than existing clinical procedures, showing the potential to improve early diagnosis of [breast cancer] and patient prognosis," the authors write.

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.