Genetic Mutations Linked to Cancer Found in 1 in 20 Adults

New study reveals higher prevalence of cancer-related genetic variants than previously understood

Published on Feb. 22, 2026

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A new study led by researchers at Cleveland Clinic has found that up to 5% of Americans, or approximately 17 million people, may be living with genetic mutations that increase their susceptibility to cancer, regardless of family history or lifestyle factors. The findings suggest that genetic predisposition to cancer may be more common than previously thought and highlight the potential benefits of broader genetic screening.

Why it matters

This research builds on prior work that underscored the potential for underrecognition of genetic cancer risk in routine clinical settings. Understanding the true prevalence of cancer-related genetic variants could lead to more personalized cancer prevention strategies and earlier detection through targeted screening programs.

The details

The study analyzed health records and genetic sequencing data from over 400,000 participants in the National Institutes of Health's All of Us Research Program. Researchers identified more than 3,400 unique mutations across 72 genes commonly associated with cancer risk. The most frequently identified cancer-related gene was MUTYH, with 1.33% of the population carrying a disease-relevant mutation. Variants in the BRCA2 and MITF genes were also commonly observed.

  • The study was published on October 27, 2025 in JAMA.
  • As of January 16, 2026, research continues to refine the understanding of the complex interplay between genetics and cancer risk.

The players

Dr. Joshua Arbesman

A practicing dermatologist and researcher at Cleveland Clinic who explained that genetic testing has traditionally been reserved for individuals with strong family histories or other high-risk indicators, but the findings show that many people with pathogenic variants fall outside those criteria.

Dr. Ying Ni

A researcher at Cleveland Clinic who, along with Dr. Arbesman, previously demonstrated that genetic predisposition to melanoma was 7.5 times higher than previously estimated by national guidelines.

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What they’re saying

“Genetic testing has traditionally been reserved for individuals with strong family histories or other high-risk indicators. Our findings show that many people with pathogenic variants fall outside those criteria, suggesting we may be missing opportunities for early detection, and prevention.”

— Dr. Joshua Arbesman, Practicing dermatologist and researcher at Cleveland Clinic (newsdirectory3.com)

What’s next

Further research is needed to determine the optimal strategies for implementing broader genetic screening and counseling to maximize its benefits while minimizing potential harms, such as anxiety and unnecessary interventions.

The takeaway

This research highlights the need for more comprehensive genetic screening to identify individuals at risk of cancer who may not otherwise be identified through traditional risk assessment methods, allowing for more personalized prevention strategies and earlier detection.