Wuhan University: blood mosaic chromosomal alterations linked to colorectal cancer risk in 17,415 people
A case-control study of 7764 colorectal cancer cases and 9651 controls found that blood mosaic chromosomal alterations further separated risk within genetic and lifestyle groups.
On 10 November 2026, EurekAlert published a release from Science China Press on a multicenter case-control study by researchers from Wuhan University and collaborating hospitals. The study included 17,415 Chinese participants: 7764 colorectal cancer cases and 9651 cancer-free controls. The authors examined whether mosaic chromosomal alterations (mCAs) detected in blood DNA add information to inherited genetic susceptibility and lifestyle factors in colorectal cancer risk assessment eurekalert.org
EurekAlerteurekalert.orgOpen source ↗. The work was published in Science Bulletin.
What mCAs are and who carries them
mCAs are large-scale somatic chromosomal changes that arise after conception and can be detected in blood-derived DNA. They include chromosomal gains, losses and copy-neutral loss of heterozygosity (CN-LOH). They accumulate with age and may be influenced by lifestyle and environmental exposures.
Autosomal mCAs were found in 604 participants, or 3.47% of the study population. Mosaic loss of chromosome X (mLOX) was identified in 433 of 6741 women, and mosaic loss of chromosome Y (mLOY) in 711 of 10,674 men. The genomic patterns were broadly similar to those reported in the UK Biobank and BioBank Japan, with some population-specific differences. Older age, smoking and drinking were each associated with a higher likelihood of carrying mCAs.
Association with colorectal cancer risk
Carrying any autosomal mCA was associated with a 22% higher risk of colorectal cancer. CN-LOH, mLOX and mLOY were each associated with increased risk, and the associations were generally stronger for expanded mCAs eurekalert.org
EurekAlerteurekalert.orgOpen source ↗.
Across polygenic risk strata, expanded mCAs identified subgroups with higher risk estimates, particularly among participants with high polygenic risk. The researchers then combined polygenic risk with smoking and drinking status into three levels of combined genetic and lifestyle risk. Expanded mCAs further distinguished risk within these groups.
The highest estimates were seen in the high combined-risk group with expanded events, compared with the low-risk group without the corresponding mCA. The odds ratios were 6.53 (95% CI 2.41–22.80) for CN-LOH, 6.89 (95% CI 2.52–24.18) for mLOX and 3.12 (95% CI 2.12–4.67) for mLOY.
The authors conclude that blood-detected mCAs may complement inherited susceptibility and lifestyle information in risk assessment. They describe the results as a basis for further investigation of mCAs as biomarkers for more individualized risk stratification. The study is observational.
