TP53 gene mutation

Genetics

• defects in TP53 are a cause of Li-Fraumeni syndrome
• TP53 is frequently mutated or inactivated in about 60% of cancers
• defects in TP53 are involved in
  • esophageal squamous cell carcinoma
  • nasopharyngeal carcinoma
  • head & neck squamous cell carcinoma
  • oral squamous cell carcinoma
  • lung cancer
  • choroid plexus papilloma
  • one form of hereditary adrenocortical carcinoma
  • Barrett metaplasia

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• cellular tumor antigen p53; tumor suppressor p53, phosphoprotein p53; antigen NY-CO-13 (TP53, p53)