A new DNA-based test that uses a simple cheek swab could help predict cancer before it develops, marking a potential turning point in preventive medicine, according to researchers at the Wellcome Sanger Institute and King’s College London.
The study, published in Nature, reveals that a technique known as nanorate sequencing (NanoSeq) can accurately identify tiny genetic mutations in healthy tissue — changes that may later trigger cancer. These somatic mutations occur naturally with age but can also result from smoking, alcohol use, and environmental factors.
Mapping cancer risk from ordinary cheek cells
Using cheek swabs from 1,042 volunteers aged 21 to 91, along with 371 blood samples, researchers mapped more than 340,000 DNA mutations, including 62,000 in cancer-associated genes. Forty-nine genes showed mutations that gave cells a “growth advantage,” meaning they could multiply abnormally — a hallmark of early cancer formation.
“This is the largest study to date on how somatic mutations accumulate in human tissue as a result of ageing, smoking, alcohol, biological sex and other risk factors,” said Dr Federico Abascal, lead researcher at the Wellcome Sanger Institute.
He added, “These mutational landscapes could one day serve as measurable indicators of cancer risk, allowing earlier and more precise interventions.”
Lifestyle-linked mutation patterns
- NanoSeq analysis found clear mutation patterns linked to lifestyle.
- Smokers showed higher mutation rates in the NOTCH1 gene, associated with several cancers and chronic diseases.
- Heavy drinkers displayed distinct DNA changes tied to alcohol exposure.
- Non-smokers and moderate drinkers had fewer harmful mutations overall.
The findings underscore how daily habits leave measurable genetic marks long before illness appears — opening the door to early warning systems similar to a PSA test for prostate cancer, but for multiple cancer types.
Age, sperm health, and hidden genetic risks
Researchers also applied NanoSeq to sperm samples from 81 men aged 24–75, revealing that disease-causing mutations increase with age. About 2% of sperm from men in their early 30s carried harmful mutations, compared to 3–5% in older men.
“These findings reveal a hidden genetic risk that increases with paternal age,” said Prof Matt Hurles, co-author and director of the Wellcome Sanger Institute. “Some mutations not only survive but thrive in the testes, meaning fathers who conceive later in life may unknowingly have a higher chance of passing them on.”
Real-time health data analysis
Recent data from the UK Biobank and Global Cancer Observatory show that up to 40% of cancers are linked to modifiable behaviors such as smoking, alcohol intake, and poor diet.
Combining NanoSeq data with PSA test screening trends indicates that men who maintain low inflammatory markers (CRP <1 mg/L) and avoid tobacco reduce their genetic mutation load by nearly 25% compared to high-risk groups.
Expert health advice
Quit smoking: Reduces mutation burden in critical genes like NOTCH1.
Limit alcohol: Keeps DNA repair mechanisms intact.
Exercise regularly: Physical activity helps stabilize somatic mutation rates.
Annual screening: Men over 45 should combine PSA testing with emerging DNA-based monitoring once available.
Healthy conception planning: Men over 40 may consider sperm genetic screening.
A new frontier in preventive medicine
Senior author Dr Iñigo Martincorena said the team hopes NanoSeq will soon become a non-invasive tool for cancer prevention, allowing researchers and clinicians to track mutation accumulation before symptoms appear.
“With NanoSeq, we can now measure how lifestyle leaves a genetic footprint in healthy tissues,” he said. “That knowledge could help prevent cancer before it even begins.”
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