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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

TP53 (Li-Fraumeni syndrome)

Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with inherited mutations in the TP53 gene (sometimes referred to as p53).  

Traditional Li-Fraumeni syndrome is associated with a number of different young-onset cancers; one study estimated that 50% of cancers in people with this syndrome occur before age 30.  Individuals with traditional Li-Fraumeni syndrome have up to a 90% risk of developing cancer by age 60, and are also at risk for developing multiple different cancers over their lifetimes.

Increased cancer risk associated with Li-Fraumeni syndrome include:

  • pre-menopausal breast cancer
  • connective tissue cancer
  • bone cancer
  • adrenal cancer
  • pancreatic cancer
  • colon cancer
  • liver cancer
  • childhood cancers
  • brain tumors
  • leukemia

Some people carry TP53 mutations that are associated with a lifetime cancer risk that isn't quite so high; this syndrome is called Li-Fraumeni Like syndrome.

Clinical guidelines for managing cancer risk associated inherited mutations in TP53 recommend:

  • avoidance of radiation whenever possible
  • heightened screening for breast cancer by breast MRI and breast exam in women beginning at age 20-29 or earlier based on family history
  • discussing the option of risk-reducing mastectomy (removal of breast tissue)
  • annual physical, skin, and neurologic exams
  • alerting pediatricians to the risk of childhood cancers in the family

A genetics expert can look at your personal and family medical history and see if it is consistent with Li-Fraumeni syndrome and order testing if appropriate.

 

updated 04/09/15

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