Inherited p53 Gene Mutations in Breast Cancer

David Sidransky, Takashi Tokino, Kathy Helzlsouer, Barbara Zehnbauer, Bonnie Shelton, Laura Prestigiacomo, Bert Vogelstein, Nancy Davidson, Kathy Helzlsouer, Greg Rausch

Research output: Contribution to journalArticlepeer-review

216 Scopus citations


Recent evidence has implicated germ-line mutations of the p53 gene as the cause of cancer susceptibility in the Li-Fraumeni syndrome, associated with the development of breast cancer and other neoplasms. Furthermore, somatic mutations of the p53 gene have been detected in a high percentage of non-familial breast cancers. We therefore sought to identify potential carriers of p53 gene mutations in a cohort of patients with early onset breast cancer. We examined 126 consecutive patients who developed breast cancer at or before the age of 40 for mutations of p53 within conserved regions of the gene. One patient with an inherited germ-line mutation of the p53 gene was identified but the functional significance of this mutation was not clear. It thus appears that only a small percentage of patients with breast cancer under the age of 40 carry germ-line mutations of the p53 gene, an observation which has implications for potential screening and risk assessment in such patients.

Original languageEnglish (US)
Pages (from-to)2984-2986
Number of pages3
JournalCancer Research
Issue number10
StatePublished - May 15 1992

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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