New Research Highlights Mosaic Chromosomal Alterations in Diverse Populations


A recent study conducted by researchers at the University of Kentucky Markey Cancer Center sheds light on the prevalence of mosaic chromosomal alterations (mCAs) in diverse populations. mCAs, a type of acquired mutations in blood cells, have been found to increase the risk of developing blood cancer by tenfold.

The study, published in Nature Genetics, is the first large-scale effort to examine the co-occurrence of mCAs among individuals of diverse ancestries. Using existing DNA sequencing data from the National Heart, Lung, and Blood Institute’s Trans Omics for Precision Medicine Program, the research team analyzed a cohort of more than 67,000 individuals with African, East Asian, European, and Hispanic ancestries.

Previous studies on mCAs have mainly focused on individuals of European and Japanese ancestries, but this research aimed to include a more diverse population. The findings revealed that mCAs affecting autosomal chromosomes are more prevalent in individuals with European ancestry.

Additionally, the study identified differences in the rate of mutations across different ancestries, particularly in relation to mosaic alterations on chromosome X. People with African and Hispanic ancestries, who were born with XX sex chromosomes, showed a higher rate of mCAs on chromosome X.

The research team also discovered new inherited genetic variants associated with an increased risk of mCAs and loss of X chromosome.

The implications of this study go beyond identifying individuals at high risk of developing certain cancers. The findings provide valuable insights into the drivers of genomic instability, a key characteristic of cancer cells. Understanding these mechanisms can pave the way for advancements in precision medicine.

Dr. Yasminka A. Jakubek, the lead researcher, emphasized the importance of including individuals from diverse backgrounds in such studies to prevent inequity in future medical advances.

The study was supported by the National Cancer Institute of the National Institutes of Health. UK HealthCare, the hospitals and clinics of the University of Kentucky, played a pivotal role in conducting this research. With more than 10,000 healthcare professionals dedicated to providing advanced subspecialty care, UK HealthCare is committed to improving medical treatments and policies. The institution is also home to the state’s only National Cancer Institute (NCI)-designated cancer center and a Level IV Neonatal Intensive Care Unit. Ranked as Kentucky’s top hospital by U.S. News & World Report, UK HealthCare strives to create a healthier future for the state and beyond.


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