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Li-Fraumeni Syndrome

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,

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Li-Fraumeni Syndrome

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  1. Li-Fraumeni Syndrome Courtney Wilson Jen Crowther Arcelia Ceron Chris Weinhold

  2. 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

  3. Gene Locus! • Li Fraumeni is a mutation of the area 12.1 of Chromosome 22’s “q” portion

  4. 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

  5. Pedigree I II III IV

  6. References • http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?151623 • http://www.gdb.org/hugo/chr22/ • http://rarediseases.info.nih.gov/ord/glossary_a-e.html

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