Li-Fraumeni

=//FORMAL NAME OF DISEASE//=

Nature of the Genetic Difficulty
The TP53 gene is responsible for initiating DNA repair mechanisms and/or apoptosis upon detection of DNA damage, Li-Fraumeni syndrome, with one of the two p53 copies already mutated, predisposes a person to cancer development because only one additional mutation (in the second p53 allele) is necessary to impair a significant portion of the tumor suppressor system.

Basis Facts of Disease
Li-Fraumeni is an extremely rare autosomal dominant syndrome in which patients are predisposed to cancer.

Criteria of diagnosis:
 * 1) A proband diagnosed with sarcoma when younger than 45 years
 * 2) A first-degree relative with any cancer diagnosed when younger than 45 years
 * 3) Another first-degree or second-degree relative of the same genetic lineage with any cancer diagnosed when younger than 45 years or sarcoma diagnosed at any age

Often results in particularly high occurrences of breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, and adrenal cortical carcinoma. Several other cancers have been seen at lower rates in Li-Fraumeni syndrome.

Prognosis
Prognosis can very and relies generally on the location, type, and stage of the cancer developed. Treatments generally include radiation or chemotherapy once the cancer is developed and the prognosis can be anything from survival followed by remission to death.

Sources Cited
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