Li-Fraumeni Syndrome

Excerpt

In 1969, a remarkable cancer predisposition syndrome was reported by Li and Fraumeni. Li-Fraumeni syndrome (LFS) is an inherited autosomal dominant disorder that is usually associated with abnormalities in the tumor suppressor protein P53 gene (TP53) located on chromosome 17p13. It is also known as the sarcoma, breast, leukemia, and adrenal gland (SBLA) cancer syndrome. LFS variants include LFS1, LFS2, LFSL. LFS1 is associated with mutations in TP53, a tumor suppressor gene. LFS2 is associated with mutations in CHEK2 (checkpoint kinase two), also a tumor suppressor gene. LFS-L are individuals that do not have detectable mutations in P53.