/Li-Fraumeni syndrome

Li-Fraumeni syndrome

Rare Disease

MONDO:0018875

Also Known As

LFSLi Fraumeni syndromeLi-Fraumeni familial cancer susceptibility syndromeLi-Fraumeni familiar cancer susceptibility syndromeLi-Fraumeni syndromeLi-Fraumeni syndrome caused by mutation in TP53SBLA syndromeTP53 Li-Fraumeni syndromeTP53-related Li-Fraumeni syndromesarcoma, breast, leukaemia and adrenal gland syndromesarcoma, breast, leukemia and adrenal gland syndromeLFS1LFS3Li-Fraumeni-like syndromeSBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)sarcoma family syndrome of 51 and Fraumenisarcoma family syndrome of Li and Fraumeni

Definition

An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.