Li-Fraumeni Syndrome Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. It is associated with germline TP53 mutations and a very high lifetime cancer risk, such as soft tissue and bone sarcomas, breast cancer, brain tumors, leukemia, and adrenal cortical carcinoma.
Several clinical criteria were established to describe families with LFS.However, the Classic LFS criteria is insensitive to de novo mutations, which leads to low sensitivity. The Chompret criteria have evolved to identify de novo mutations. They have higher sensitivity than the Classic criteria, but lower specificity. We developed a method based on Mendelian risk prediction model to estimate the TP53 mutation carrier probability and predication the cancer risk for the carriers in future.
