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One Person's Junk Is Another Person's Cancer Biomarker


A group of researchers at the Virginia Bioinformatics Institute at Virginia Tech have developed a new technology to study biomarkers in so-called "junk DNA" that can distinguish cancer patients from healthy people, says Highlight Health's Walter Jessen. The study, published in Genes, Chromosomes and Cancer, describes the work, and the researchers say the new technology could one day serve as the basis for a cancer prognosis test, Jessen adds. In December, VBI researchers discovered a four-nucleotide repeat in the ESRRG gene which could help a clinician determine a patient's risk for breast cancer. This repeat was more likely to be present in breast cancer patients in longer sequences than in healthy individuals, Jessen says, adding, "patients with a greater number of copies of the repeat in the promoter region of the ESRRG gene have a 3-fold higher cancer susceptibility rate than those who do not." In the latest study, the research team created a design for a new DNA microarray that measures the more than two million microsatellites in the human genome in one experiments, Jessen says. What the team found was a pattern of 18 specific microsatellite families present in germline and tumor DNA from breast cancer patients, but not in the DNA of healthy people. "These 18 pattern-specific microsatellite families suggest a new mechanism disrupting the genome in cancer patients and may represent a new breast cancer risk biomarker," Jessen says.

The Scan

Genetic Tests Lead to Potential Prognostic Variants in Dutch Children With Dilated Cardiomyopathy

Researchers in Circulation: Genomic and Precision Medicine found that the presence of pathogenic or likely pathogenic variants was linked to increased risk of death and poorer outcomes in children with pediatric dilated cardiomyopathy.

Fragile X Syndrome Mutations Found With Comprehensive Testing Method

Researchers in Clinical Chemistry found fragile X syndrome expansions and other FMR1 mutations with ties to the intellectual disability condition using a long-range PCR and long-read sequencing approach.

Team Presents Strategy for Speedy Species Detection in Metagenomic Sequence Data

A computational approach presented in PLOS Computational Biology produced fewer false-positive species identifications in simulated and authentic metagenomic sequences.

Genetic Risk Factors for Hypertension Can Help Identify Those at Risk for Cardiovascular Disease

Genetically predicted high blood pressure risk is also associated with increased cardiovascular disease risk, a new JAMA Cardiology study says.