Germline TP 53 mutations in breast cancer families with multiple primary cancers : is TP 53 a modifier of BRCA 1 ?

@inproceedings{Martin2003GermlineT5,
  title={Germline TP 53 mutations in breast cancer families with multiple primary cancers : is TP 53 a modifier of BRCA 1 ?},
  author={A. Martin and Peter A. Kanetsky and B Amirimani and Theresa A Colligon and Georgios Athanasiadis and Helen A. Shih and Michelle R. Gerrero and Kathy Calzone and Timothy R. Rebbeck and Barbara L. Weber},
  year={2003}
}
Somatic mutations in TP53 are the most frequent events in human cancer and lead to inactivation of the gene, loss of tumour suppressor function, and in some cases generation of a dominant negative form of p53. Eleven exons make up the primary transcript of TP53, of which exons 2-11 encode the protein. Five conserved domains exist in exons 1, 4, 5, 7, and 8, which are considered essential for normal p53 function. Approximately 90% of disease associated mutations occur in these domains, with… CONTINUE READING