Li–Fraumeni syndrome

Li–Fraumeni syndrome is an inherited cancer predisposition syndrome, usually caused by a pathogenic germline variant in TP53. It raises the risk of multiple cancers, often beginning at young ages.

p53: A tumor-suppressor protein that can halt the cell cycle, promote DNA repair, or trigger cell death. Li–Fraumeni-associated variants can impair this protein’s protective functions.
Toronto protocol: A surveillance program for Li–Fraumeni syndrome that combines regular clinical examinations, imaging, and other screening tests. It provides a structured approach to detecting cancers before symptoms appear.
Adrenocortical carcinoma: A rare cancer arising in the outer layer of the adrenal gland. It is a characteristic childhood cancer in the Li–Fraumeni tumor spectrum.
Frederick Li: An American epidemiologist who helped characterize the familial cancer syndrome later named for him and Joseph Fraumeni. His investigation of childhood cancers in families helped establish the syndrome.
Variant of uncertain significance: A genetic change for which available evidence is insufficient to determine whether it causes disease. Some TP53 test results do not establish whether a person has the syndrome.
Tumor suppressor gene: A gene whose normal activity helps restrain cell growth, preserve genome integrity, or eliminate damaged cells. TP53 is a tumor suppressor whose inherited impairment drives the syndrome.
Whole-body MRI: Magnetic resonance imaging that surveys much or all of the body without using ionizing radiation. It is used in surveillance to search for tumors while avoiding radiation exposure.
Choroid plexus carcinoma: A rare malignant brain tumor arising from the tissue that produces cerebrospinal fluid. This childhood tumor is associated with pathogenic TP53 variants.
Joseph Fraumeni: An American physician and epidemiologist known for research on familial cancer patterns and cancer causes. His collaboration with Frederick Li gave the syndrome its name.
Mosaicism: The presence of genetically distinct cell populations within one individual, arising from a change after fertilization. Mosaic TP53 variants can complicate diagnosis and estimates of inherited risk.

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