As people age, the DNA in their cells begins to accumulate genetic mutations. Mosaic chromosomal alterations (mCAs), a category of mutations acquired in blood cells, are linked with a 10-fold increased risk of developing blood cancer.
mCAs hold promise as a tool to identify people at high risk of developing certain cancers and diseases, but they have not yet been studied among a large, diverse cohort of people – a critical step required before such testing can be developed.
University of Kentucky Markey Cancer Center researcher and current Research Scholar, Sasha Jakubek, Ph.D., has led the first large-scale effort to understand the co-occurrence of mCAs among individuals of diverse ancestries. The study was published in Nature Genetics Oct. 30.
“mCAs are promising biomarkers for cancer risk assessment and early detection,” said Jakubek, an assistant professor in the UK College of Medicine’s Department of Internal Medicine. “Studies that are inclusive are important to ensure that mosaic mutation-based disease risk models and clinical biomarker studies perform equally well regardless of a person’s genetic ancestry.”