Frequent p53 Gene Mutations and Novel Alleles in Familial Breast Cancer1

Oleg K. Glebov, Katherine E. McKenzie, Saraswati Sukumar

Research output: Contribution to journalArticlepeer-review

86 Scopus citations


Mutations in the p53 gene were detected in 58% of tumor DNAs of patients with a family history of breast cancer (FHBC) compared to 13% with sporadic breast cancer. Seven of 18 FHBC tumors contained the same G to C transversion in codon 156. Novel alleles of altered length were seen in one or more loci on chromosome 17 in 15 of 18 patients with FHBC but only in a single locus in 8 of 14 patients with sporadic breast cancer. The frequency of tumors with mutations in p53, often multiple, accompanied by the appearance of multiple altered-length alleles suggest that DNA replication or repair defects may presage genomic instability in cases with FHBC.

Original languageEnglish (US)
Pages (from-to)3703-3709
Number of pages7
JournalCancer Research
Issue number14
StatePublished - Jul 1994
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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