Definition:
The Li-Fraumeni syndrome is an autosomal dominant disorder. It develops a tumor that hinders normal cell growth. It can also take form in several types of cancers and attack persons at a very young age.
Diagnosis:
The disease is confirmed to be present when the suspected patient is diagnosed with a sarcoma below the age of 45, and two of his relatives has been diagnosed with cancer below the same age.
Treatment:
Genetic counseling and testing are used to determine if a person has the Li-Fraumeni syndrome. When discovered early then the cancers spun out from disease can be easily treated.
Causes:
The disease is a result of a mutation in p53, a kind of gene that supresses tumors. Persons with the disease possess a defective p53 gene paired with a healthy p53 gene. But because of its destructive mutation, the defective gene knocks out the healthy copy and leads to cancer.
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