Endocrine Abstracts

Li Fraumeni syndrome (LFS) is a prototypic cancer predisposition syndrome, characterized by multiple, early-onset malignant tumours including breast cancer, bone and soft tissue sarcomas, brain tumors and adrenocortical carcinoma (ACC). LFS is most commonly attributed to germline mutations in the TP53 tumor-suppressor gene. p53 activity is tightly regulated by multiple post-translational mechanisms, disruption of which may lead to tumorigenesis. ACC occurs at disproportionatel...