p53 (TP53, Tumor Protein p53) Gene Mutation Analysis

Li-Fraumeni Syndrome

Germline (heritable) mutations in the p53 gene1 predispose individuals to various tumors (early onset sarcomas and breast cancer, brain tumors, adrenal cortical carcinomas, and leukemias) associated with Li-Fraumeni syndrome 2,3. Identification of p53 gene mutations in cancer patients from Li-Fraumeni syndrome or Li-Fraumeni syndrome-like4 families may permit identification of individuals at high risk for cancer in these families.

To open a printable assay summary in a new window, click the link below.

Li-Fraumeni Syndrome (p53 Gene) Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the Cancer Patient Information Form when ordering this test.

  1. Malkin, D. et al. (1990). Science 250:1233-1238.
  2. Li, F. P. et al. (1988). Cancer Res. 48:5358-5362.
  3. Garber, J. E. et al. (1991). Cancer Res. 51:6094-6097.
  4. Birch, J. M. et al. (1994). Cancer Res. 54:1298-1304.