In a statement released in conjunction with a new study of more than 400,000 people, the team said the more than 3,400 mutations discovered could affect individuals regardless of their personal or family history of the disease.
"Genetic testing has long been limited to individuals with a strong family history or high-risk markers," said Dr. Joshua Arbesman, a dermatologist at the medical center. "Our findings show that many people carrying pathogenic variants do not meet these criteria, potentially missing opportunities for early detection and prevention."
The findings come at a time when early-onset cancer rates are rising among young Americans, including breast and colorectal cancers. The researchers explained that the findings underscore the importance of regular cancer screening and point to the need for genetic testing even for people who do not belong to high-risk groups.
About two million Americans are diagnosed with some type of cancer each year, and about one in eight patients has a genetic mutation linked to cancer, according to a 2020 Mayo Clinic study. An estimated 36.7 million new cases were recorded between 2003 and 2022, according to the Centers for Disease Control and Prevention.
The American Cancer Society expects more than two million new cases and 618,000 deaths this year, or about 1,700 deaths per day, with breast, prostate, and lung cancers being the most common.
Melanoma also remains a concern, with an expected 104,960 new cases and 8,430 deaths in 2025, according to the National Cancer Institute. Researchers have previously confirmed that the genetic predisposition to melanoma is 7.5 times higher than national guidelines estimate.
"Knowing the prevalence of genetic variants in the general population gives us a clearer picture, without any preconceived assumptions based on lifestyle or family history, which enhances the ability to detect early and improves prevention opportunities," said researcher Ni Ying Ni.
