Clinical experience of patients with Li-Fraumeni syndrome with a history of breast cancer patients in our institution and the role of the LFS board

Abstract

　Li-Fraumeni syndrome （LFS） is a hereditary disorder caused by a pathogenic variant of the TP53 gene, which carries a high risk of developing a variety of malignant tumors beginning in childhood and continuing throughout life. We are promoting genetic counseling and BRCA1/2 genetic testing for patients with suspected hereditary breast and ovarian cancer and are also making efforts to establish a system for TP53 genetic testing. From 2020 to 2022, we proposed TP53 genetic testing to 27 breast cancer patients under 31 years of age in our department, and a total of 8 patients underwent the test, of which 1 patient showed TP53 mosaicism. Meanwhile, there were a total of 4 patients with sarcoma as the first cancer who were diagnosed with LFS and subsequently developed breast cancer. In our institution, we have established the “LFS board” with other departments, mainly in the Department of Genetic Medicine and Services, and have been holding regular conferences on the treatment strategy for each LFS patient. In this report, we will describe the results of our survey on the treatment status related to TP53 genetic testing in our institution and outline the role of the LFS board in our institution.