May 20, 2024

New Study Explores Mosaic Chromosomal Alterations and Cancer Risk

A recent study led by researchers at the University of Kentucky Markey Cancer Center has shed light on mosaic chromosomal alterations (mCAs) and their association with cancer risk. mCAs are a category of mutations that occur in blood cells and have been linked to a significant increase in the risk of developing blood cancer. This study, published in Nature Genetics, marks the first large-scale effort to understand the co-occurrence of mCAs in individuals of diverse ancestries.

The research team, consisting of over 50 scientists from institutions across the United States, utilized existing DNA sequencing data from the National Heart, Lung, and Blood Institute’s Trans Omics for Precision Medicine Program to detect mCAs. The cohort included more than 67,000 individuals with African, East Asian, European, and Hispanic ancestries, making it one of the most diverse studies on mCAs to date.

mCAs have shown promise as biomarkers for assessing cancer risk and enabling early detection. However, previous studies predominantly focused on individuals with European and Japanese ancestries, highlighting the need for more inclusive research. This study aimed to ensure that mosaic mutation-based disease risk models and clinical biomarker studies perform effectively regardless of a person’s genetic ancestry.

The study found that mCAs affecting autosomal chromosomes, which humans have 22 pairs of, were more prevalent in individuals with European ancestry. Furthermore, the team discovered differences in the rate of mCAs on specific chromosomes among individuals of different ancestries. Notably, individuals with African and Hispanic ancestries born with XX sex chromosomes exhibited an increased rate of mCAs on chromosome X.

In addition to providing valuable insights into cancer risk assessment and early detection, the study identified new inherited genetic variants associated with an increased risk of mCAs and loss of X. These findings contribute to our understanding of the drivers of genomic instability, a prominent characteristic of cancer cells.

The researchers aim to lay the foundation for advances in precision medicine by studying the mutations that accumulate as people age. Including individuals from diverse backgrounds is critical to avoid inequities in future medical advancements. Ultimately, this research paves the way for the development of a blood test that can identify individuals at risk of developing certain cancers.

As the field of oncology continues to progress, understanding the underlying genetic factors that contribute to cancer risk becomes increasingly important. By unraveling the mysteries of mosaic chromosomal alterations, researchers strive to improve cancer prevention, early detection, and personalized treatment strategies.


  1. Source: Coherent Market Insights, Public sources, Desk research
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