Li-Fraumeni Syndrome

Courtney Wilson Jen Crowther Arcelia Ceron Chris Weinhold

Li-Fraumeni Syndrome

 The diagnostic criteria for Li-Fraumeni syndrome are: – Presence of sarcoma in proband at <45 years of age; – – AND sarcoma, breast cancer, primary brain tumor, leukemia or adrenocortical carcinoma in a first degree relative <45 years of age; – AND cancer diagnosed in another close relative at <45 years old or sarcoma at any age

Gene Locus!

 Li Fraumeni is a mutation of the area 12.1 of Chromosome 22’s “q” portion

p53 and LFS

 It is autosomal dominant  Individuals inherit one defective allele but maintain a normal phenotype until there is another mutation  LFS is the inheritance of a predisposition for cancer, via heterozygous p53 mutations

I II III IV

Pedigree

References

   http://www3.ncbi.nlm.nih.gov/htbin post/Omim/dispmim?151623

http://www.gdb.org/hugo/chr22/ http://rarediseases.info.nih.gov/ord/glos sary_a-e.html