Li-Fraumeni syndrome
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
LFS
exact
LFS1
related
LFS3
related
Li Fraumeni syndrome
exact
Li-Fraumeni familial cancer susceptibility syndrome
exact
Li-Fraumeni syndrome
exact
Li-Fraumeni syndrome caused by mutation in TP53
exact
SBLA syndrome
exact
SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)
related
TP53 Li-Fraumeni syndrome
exact
TP53-related Li-Fraumeni syndrome
exact
sarcoma family syndrome of Li and Fraumeni
related
sarcoma, breast, leukemia and adrenal gland syndrome
exact
SPCC18B5.11c