Li-Fraumeni syndrome

Li-Fraumeni Syndrome (OMIM: 151623) is a hereditary tumor syndrome associated with a generally increased predisposition to cancer (without clear organ specificity).

Etiology

 * The cause a germline mutation tumor supressor gene TP53 (17p13.1);
 * A similar clinical picture (so-called Li-Fraumeni syndrome 2 OMIM: 609265) is caused by a mutation in the CHEK2 gene (22q12.1; OMIM: 604373 ), otherwise also associated with hereditary breast cancer.

Clinical image

 * The syndrome is characterized by a highly variable phenotype:
 * osteosarcomas and soft tissue sarcomas
 * breast cancer
 * adrenal medullary adenocarcinoma
 * CNS tumors
 * leukemia
 * It is usually a very early onset of cancer

Occurrence

 * It is characterized by a very frequent occurrence of tumors in the family ("tumor families"). Incidence in the world is 1–9/100,000.

History
The syndrome was described by Frederick Pei Li and Joseph F. Fraumeni jr. in 1969.

Related articles

 * Hereditary cancer
 * Neurofibromatosis
 * Wilms tumor