Have questions? Visit https://www.reddit.com/r/SNPedia

Li-Fraumeni syndrome

From SNPedia


Li-Fraumeni syndrome is a rare autosomal dominant hereditary disorder that greatly increases susceptibility to cancer. The disorder is named after Frederick Pei Li and Joseph F. Fraumeni, U.S. physicians who originally described the syndrome.

While Li-Fraumeni syndrome is typically a rare disorder, a founder effect has resulted in 1 person in 375 from Southern Brazil carrying the R337H variant. Thus, unexpectedly, upwards of 300,000 Brazilians might be affected by this otherwise rare disease. [PMID 27663983] Compulsory screening found 0.27% of newborns were carriers in the Southern Brazilian state of Paraná. [PMID 23733769]


The syndrome is most commonly caused by mutations in the p53 tumor suppressor gene TP53. Carriers are especially susceptible to brain tumors, breast cancer, leukemia, sarcoma of bone and soft tissues, and adrenal cortical carcinoma. Li-Fraumeni syndrome may be suspected in patients who develop a sarcoma before age 45, especially if any close relatives have also been diagnosed with cancer by that age or with a sarcoma at any age.

SNPs leading to Li-Fraumeni syndrome include: