TY - JOUR
T1 - The Li-Fraumeni syndrome
T2 - An inherited susceptibility to cancer
AU - Evans, Susan C.
AU - Lozano, Guillermina
PY - 1997/9
Y1 - 1997/9
N2 - The Li-Fraumeni syndrome is a rare autosomal-dominant disease whose hallmark is a predisposition to a wide range of cancers among members of a family. Many of these families have a germline mutation within the tumor suppressor gene TP53, which encodes the p53 protein. The inheritance of a mutant TP53 allele results in a 25-fold increase in the chance of developing cancer by 50 years of age, compared with the general population. TP53 mutations are also very common in the development of somatic tumors. This article reviews the biological and biochemical role of p53 in the susceptibility to cancer in Li-Fraumeni syndrome.
AB - The Li-Fraumeni syndrome is a rare autosomal-dominant disease whose hallmark is a predisposition to a wide range of cancers among members of a family. Many of these families have a germline mutation within the tumor suppressor gene TP53, which encodes the p53 protein. The inheritance of a mutant TP53 allele results in a 25-fold increase in the chance of developing cancer by 50 years of age, compared with the general population. TP53 mutations are also very common in the development of somatic tumors. This article reviews the biological and biochemical role of p53 in the susceptibility to cancer in Li-Fraumeni syndrome.
UR - http://www.scopus.com/inward/record.url?scp=0031414301&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031414301&partnerID=8YFLogxK
U2 - 10.1016/S1357-4310(97)01105-2
DO - 10.1016/S1357-4310(97)01105-2
M3 - Review article
C2 - 9302689
AN - SCOPUS:0031414301
SN - 1357-4310
VL - 3
SP - 390
EP - 395
JO - Molecular Medicine Today
JF - Molecular Medicine Today
IS - 9
ER -