• breast cancer;
  • cancer;
  • tumor;
  • p53;
  • TP53;
  • loss of heterozygosity;
  • LOH;
  • Li-Fraumeni syndrome;
  • LFS


The TP53 gene (p53) is found altered in breast carcinomas in approximately 20–40% of all cases depending on tumor size and stage of the disease. It seems to be an early event in breast tumorigenesis. Several polymorphisms in the TP53 gene have been detected and their possible roles in breast cancer risk and association to type of cancer developed are discussed. The different mutation spectra seen in geographical and ethnic populations may be used to identify environmental exposure contributing to breast cancer development. The role of TP53 mutation as a prognostic marker is reviewed as well as its role as a predictor for therapy response. All data available on TP53 mutation analyses of human breast carcinomas, as well data from transgenic animal studies and experimental cell studies, support an important role for TP53 in mammary carcinogenesis. Hum Mutat 21:292–300, 2003. © 2003 Wiley-Liss, Inc.