Cancer screening protocol for patients with Li-Fraumeni syndrome

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In a new study from the National Cancer Institute (NCI), part of the National Institutes of Health, researchers found a higher than expected 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 screening 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.

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…

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