A National Cancer Institute study revealed people with Li-Fraumeni syndrome (LFS) show cancer more often at initial screenings than expected and also indicated the possibility of new screening plans to test these individuals.
LFS is an inherited genetic disorder that increases the risks of developing cancers, including bone and soft-tissue cancers, adrenal gland cancer, brain tumors and breast cancer. The disorder more times than not comes from changes in the TP53 gene that are passed from one generation to another.
People with LFS are approximately 50 percent more likely to get cancer by the time they turn 40, and they are 90 percent likely to get cancer by the time they turn 60. Many will get multiple first-time cancers during their lives.
In this study, medical experts changed the way people were tested for cancer in a previous experiment and tested 116 people with LFS who had those TP53 changes that were passed from one generation to the next, a National Institutes of Health release said. The medical experts did the cancer testing through MRIs of the body, brain and breast, mammography, blood work, colonoscopy and ultrasound of the abdomen.
The medical experts discovered 34 percent of those tested had unusual findings that needed to be tested again after initial testing with the MRIs. The medical experts found that 7 percent of that 34 percent found out they had a first-time cancer they didn't have before.
“For high-risk populations, like families with LFS, personalized prevention approaches like this are critical to the early detection of the many kinds of cancers seen in this group,” Sharon Savage of NCI’s division of cancer epidemiology and genetics and leader of the study said in the release. “This protocol, along with other published studies, offers patients with LFS a new road map for early cancer detection going forward.”