Frequent p53 gene mutations and novel alleles in familial breast cancer
Glebov, O.K.; McKenzie, K.E.; White, C.A.; Sukumar, S.
Cancer Research 54(14): 3703-3709
1994
ISSN/ISBN: 0008-5472 PMID: 8033087 Document Number: 426679
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.