Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome

Jerry W. Shay, Gail Tomlinson, Mieczyslaw A. Piatyszek, Lauren S. Gollahon

Research output: Contribution to journalArticle

146 Scopus citations


Individuals with germ line mutations in the p53 gene, such as Li-Fraumeni syndrome (LFS), have an increased occurrence of many types of cancer, including an unusually high incidence of breast cancer. This report documents that normal breast epithelial cells obtained from a patient with LFS (with a mutation at codon 133 of the p53 gene) spontaneously immortalized in cell culture while the breast stromal fibroblasts from this same patient did not. Spontaneous immortalization of human cells in vitro is an extremely rare event. This is the first documented case of the spontaneous immortalization of breast epithelial cells from a patient with LFS in culture. LFS patient breast stromal fibroblasts infected with a retroviral vector containing human papillomavirus type 16 E7 alone were able to immortalize, whereas stromal cells obtained from patients with wild-type p53, similarly infected with human papillomavirus type 16 E7, did not. The present results indicate a protective role of normal pRb-like functions in breast stromal fibroblasts but not in breast epithelial cells and reinforces an important role of wild- type p53 in the regulation of the normal growth and development of breast epithelial tissue.

Original languageEnglish (US)
Pages (from-to)425-432
Number of pages8
JournalMolecular and cellular biology
Issue number1
StatePublished - Jan 1995


ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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