Researchers have proposed using a new technique based on a simple cheek swab to detect genetic mutations in healthy tissue, considering that it may become an effective tool for early cancer prevention.
A team from the Wellcome Sanger Institute, in cooperation with the TwinsUK study at King’s College London, has developed an advanced technology known as nano-sequencing (NanoSeq), which allows the analysis of genetic changes with unprecedented precision, enabling researchers to track somatic mutations that appear naturally with age or as a result of environmental factors such as smoking and alcohol consumption.
Through the technology, researchers were able to analyze cheek swabs from more than 1,000 participants, along with additional blood samples, whose ages ranged between 21 and 91 years, and included smokers, non-smokers, and people who consumed alcohol at varying levels.
The analysis showed more than 340,000 mutations in cheek cells, including 62,000 mutations in genes known to cause cancer, while 49 genes contained mutations that give cells an advantage in growth. These changes may represent the early stages of cancer formation.
Dr Federico Abascal, from the Wellcome Sanger Institute, said: “This is the largest study to date on how somatic mutations accumulate in human tissue as a result of aging, smoking, alcohol, biological sex and other risk factors.”
He added: “These mutational patterns could be used in the future as measurable indicators to estimate the risk of cancer, providing opportunities for early intervention and precise prevention.”
The study showed that smokers showed more mutations in the NOTCH1 gene associated with several diseases, while alcoholics showed distinct changes in their DNA. The researchers also noted that most mutations in normal tissues were limited and did not multiply over time.
Dr. Inigo Martincorina, the study’s lead researcher, noted that NanoSeq technology allowed them to measure the genetic effects of lifestyle factors in healthy tissues, adding: “We hope that this technology will contribute to cancer prevention by identifying environmental factors causing mutations and helping researchers develop preventive drugs in the future.”
In another aspect of the research, researchers used the same technique to study genetic changes in sperm as men age.
The results of analyzing samples from 81 men aged between 24 and 75 years showed that about 2% of sperm in men in their early thirties carry disease-causing mutations, with the percentage rising to 3-5% in middle-aged and older men.
Professor Matt Hurls, Director of the Wellcome Sanger Institute and co-author of the study, said: “Our results reveal a hidden genetic risk that increases with the age of the father, as some genetic changes flourish within the testicles, increasing the possibility of passing harmful mutations to children without the parents’ knowledge.”
