cfDNA Fragmentomics Plus Methylation Analysis May Improve Detection of Precancerous Colorectal Lesions
Researchers have developed a blood-based test that combines cfDNA fragmentomics and methylation analysis to improve the detection of early-stage colorectal cancer and precancerous lesions. This noninvasive method aims to overcome the limitations of current screening tools like colonoscopies and fecal tests.
Why it matters
Improving early detection of precancerous lesions could significantly reduce colorectal cancer mortality rates by providing a more accessible and accurate screening alternative.
A blood-based assay combining cell-free DNA (cfDNA) fragmentomics with droplet digital PCR–based methylation analysis improved detection of early-stage colorectal cancer (CRC) and precancerous lesions, according to findings presented at the 2026 ASCO Breakthrough meeting in Singapore.
In this study, fragmentomics referred to patterns in cfDNA fragments, including fragment length, end motifs, and nucleosome footprinting. Methylation analysis evaluated epigenetic changes that can occur early in colorectal tumorigenesis.
The research, presented by Thi Tuong Vi Van, BSc , of the Medical Genetics Institute in Ho Chi Minh City, Vietnam, evaluated plasma cfDNA samples from 380 patients with nonmetastatic CRC, 121 individuals with precancerous lesions, and 506 healthy controls. The investigators found that cfDNA fragmentomic features could detect CRC, but adding methylation markers improved detection of precancerous lesions, which has remained a key limitation for blood-based CRC screening approaches.
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