A recent study led by researchers at Duke Health has found that about one in 12 patients diagnosed with two or more different types of cancer have inherited a mutation in a gene known to increase cancer risk. The findings could lead to changes in how genetic testing is offered to cancer patients.
The research, published in the Journal of the American Medical Association (JAMA) Oncology, points out that people who are diagnosed with multiple cancers are not typically tested for inherited cancer risk genes. The authors recommend broader access to genetic screening for this group. Such screening could influence treatment choices, guide additional cancer screenings, and inform family members about potential inherited risks.
“As more patients survive their first cancer, we’re learning that many carry inherited genetic mutations that put them at risk for developing additional cancers,” said Kathleen Cooney, M.D., senior author of the study and George Barth Geller Distinguished Professor of Medicine and chair in the Department of Medicine at Duke University School of Medicine.
“Knowing this opens the door to earlier screening, more personalized treatment, and the chance to protect family members through genetic testing,” Cooney said.
Researchers used data from the UK Biobank, which holds genetic and health information from hundreds of thousands of participants. They analyzed 96 established cancer predisposition genes across 11 common cancers. This included BRCA1 and BRCA2 genes—both widely recognized as linked to increased cancer risk.
The study found that 8.36% of individuals with multiple cancer diagnoses had a rare pathogenic variant in one of these genes. It also confirmed links between BRCA2 and cancers not previously associated with it, such as bladder and lung cancer.
Because this research examined a large population sample—not just those with family histories or those referred to specialty clinics—it provides new insight into how common inherited cancer risks may be.
“We’ve now implicated some potential cancers that patients may be at risk for, which is different than what we’re seeing during family-based studies,” said Jeffrey Shevach, M.D., first author and assistant professor in the Department of Medicine at Duke University School of Medicine.
“As we uncover new gene-cancer associations, it may lead to changes in screening guidelines to reflect this broader understanding of inherited risk,” said Shevach.
Other contributors to the study include Jianfeng Xu, Nathan Snyder, Jun Wei, Zhuqing Shi, Huy Tran, Lilly Zheng, and Jennifer L. Beebe-Dimmer. The work was supported by funding from the National Institutes of Health (PO1 CA272239).
Duke University Hospital is located in Durham, North Carolina and was founded in 1925. Craig T. Albanese serves as its current president. The hospital functions as both a pediatric care center and training facility; according to its 2022 annual report, it admitted over 41,000 patients during that year.
