Li-Fraumeni Syndrome Support Group

There is only one consensus on Criteria for LFS and Screening for cancers of this syndrome, it is that there is NO consensus. This was a major focus of the LFS conference, to bring together researchers, clinicians and families from around the world to collaborate.

The incidence of Adrenocortical Tumors(ACT) in Southern Brazil is 10 times higher than that of the general population.  ACT, usually diagnosed in childhood, has been linked to Li Fraumeni Syndrome and a mutation in the p53 chromosome region.  Dr. Raul Ribeiro found that despite the high incidence of ACT, the families in the southern regions of Brazil did not show an increased diagnosis of other core tumors seen in typical LFS. These families presented a unique opportunity to study Adrenocortical carcinoma, the potential relation to the p53 mutation and the case for newborn screening of this condition.

Li- Fraumeni Syndrome is an inherited condition that predisposes members to developing cancers at various locations and ages and often multiple tumors during a lifetime. There are a group of "core" tumors that are seen most frequently, but many different cancers in various locations have been reported. The Core tumors are sarcomas, breast, brain, adrenal cortical as well as lymphomas and leukemias.  Most members with Li Fraumeni Syndrome(LFS) possess a germline mutation in the p53 gene. It is estimated that over 50% of all cancerous tumors also contain mutations in the p53 gene. P53 is a dominant gene, which means that if the mutated gene is inherited, the member is at risk for developing a number of common tumors at earlier ages than found in the general population.

M. D. Anderson News Release 06/26/09

Researchers at The University of Texas M. D. Anderson Cancer Center have identified a protein that marks the tumor suppressor p53 for destruction, providing a potential new avenue for restoring p53 in cancer cells.