“Utilizing Nullomers in Cell-Free RNA for Cancer Detection” ASHG Platform Presentation

Austin Montgomery

ASHG Abstract Presented by Austin Montgomery, Penn State College of Medicine, Hershey, Pennsylvania.

The following is a report of a significant abstract released on Friday, November 3, during the Annual American Association of Human Genetics meeting (ASHG 2023), being held in Washington, DC, November 1-5.

Nullomers, short segments of DNA found in cell-free (cf) RNA, show promise as biomarkers for certain kinds of cancer, such as hepatocellular carcinoma (HCC), resulting in early diagnosis and improved survival of cancer patients. Researchers at Penn State College of Medicine show that nullomers may prove to be more sensitive biomarkers than cfDNA because they typically are detected in the presence of genetic mutations. Otherwise, they are undetectable in the human genome. The study also found that about 80% of mutations cause a nullomer to surface, and certain mutational signatures are more likely to be linked to nullomers than others. After examining the nullomers from HCC, the researchers linked over 90% to liver-associated genes, while other models showed  a connection between nullomers and liver, stomach, and lung cancers. These results show how nullomers can be used as a method of detecting cancer early and non-invasively.

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