What does LFS stand for?

1,2) In addition to an association with low birth weight, there are several linked genetic diseases including overgrowth syndromes such as Beckwith-Wiedemann syndrome, chromosomally linked conditions (trisomies 2, 8 and 20) and X-linked Simpson-Golabi-Behmel syndrome, type 1 glycogen storage diseases, Li-Fraumeni syndrome, familial adenomatous polyposis (FAP) (3-6) and type 1 neurofibromatosis.

TP53 Mutations in the TP53 gene on 17p are also known to predispose to early breast cancer [23] and account for over 70% of cases of Li-Fraumeni syndrome [24].

Mutations of CHEK2 may double the risk of breast cancer, and--although extremely rare--inherited mutations of TP53 in families with Li-Fraumeni syndrome, and PTEN in families with Cowden syndrome are tied to high risk of early-onset breast cancer.

The 1100delC mutation in exon 10 abolishes the kinase function of CHEK2 (5) and has been reported in patients with Li-Fraumeni syndrome in the United States and in Finnish families with a cancer phenotype suggestive of Li-Fraumeni syndrome, including breast cancer (5).

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.