Li–Fraumeni syndrome

Li–Fraumeni syndrome is a dominantly inherited cancer
syndrome caused by constitutional mutations in the TP53 or
CHK2 genes. Affected family members develop multiple
primary tumours at an early age that include
rhabdomyosarcomas, soft tissue sarcomas, breast cancer, brain
tumours, osteosarcomas, leukaemia, adrenocortical carcinoma,
lymphomas, lung adenocarcinoma, melanoma, gonadal germ
cell tumours, prostate carcinoma and pancreatic carcinoma.
Mutation analysis may confirm the diagnosis in a family and
enable predictive genetic testing of relatives, but screening for
neoplastic disease in those at risk is difficult.