These results came after a large-scale analysis of the genome structure of more than 414,000 volunteers, and the study was published in the scientific journal JAMA.
The researchers explained in the article: "The analysis showed that approximately 5.05% of people carry pathogenic, or presumed pathogenic, variants in genes that contribute to the development of cancer, a much higher proportion than previous estimates for the human population as a whole. This suggests that current genetic screening methodologies are not detecting a significant portion of individuals within risk groups."
These findings were reached by a team of American geneticists led by researcher Joshua Arbesman of the Cleveland Clinic, using data from the "All of Us" program, which aims to decode the genes of one million volunteers and compare genetic differences with their health characteristics.
The team used this data to assess the extent to which participants inherited mutations associated with increased tumor risk from their parents. More than 3,400 genetic variants were analyzed in the participants. Pathogenic mutations appeared in 72 genes in approximately 21,000 volunteers, representing 5.05% of the participants.
The most common of these mutations were in the MUTYH, BRCA2, and MITF genes, which are associated with the development of polyps, breast cancer, and melanoma, and occurred more frequently among descendants of Europeans than in other racial and ethnic groups.
The researchers noted that the presence of these mutations significantly increases the likelihood of detecting tumors in volunteers, especially if they have relatives with a similar medical history, and also leads to a lower average age at first detection.
They added that these findings confirm that current DNA screening methods are insufficient to detect all individuals at risk, necessitating the development of more comprehensive and accurate genetic screening programs.
