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NCI study shows feasibility of cancer screening protocol for high-risk population

, by DCEG Staff

Part of a representative image of a whole body MRI, obtained at the Clinical Center from one of the study’s LFS patients. The arrow points to a small lung lesion that was subsequently identified as a lung adenocarcinoma.

In a new study from the National Cancer Institute (NCI), researchers found a high prevalence of cancer at baseline screening in individuals with Li-Fraumeni syndrome (LFS), a rare inherited disorder that leads to a higher risk of developing certain cancers. The research demonstrates the feasibility of a new, comprehensive cancer surveillance protocol for this high-risk population.

The study was led by Sharon A. Savage, M.D., of NCI’s Division of Cancer Epidemiology and Genetics (DCEG), and was published with a companion meta-analysis on August 3, 2017, in JAMA Oncology. NCI is part of the National Institutes of Health.

LFS is most often caused by germline, or hereditary, mutations in a tumor suppressor gene known as TP53. The disorder results in many kinds of cancers—including bone and soft-tissue cancers (sarcomas), breast cancer, brain tumors, and cancer of the adrenal gland—that frequently occur at young ages. Individuals with LFS have an approximately 50 percent chance of developing cancer by age 40, and up to a 90 percent chance by age 60. Many patients with LFS develop more than one primary cancer over their lifetimes.

Read the full NCI press release on this study.

Reference: Mai PL, et al. High prevalence of cancer at baseline screening in the NCI’s Li-Fraumeni syndrome cohort. JAMA Oncol. August 3, 2017. DOI: 10.1001/jamaoncol.2017.1350

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