Frequent p53 gene mutations and novel alleles in familial breast cancer.
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.
Glebov
O K
OK
Salk Institute for Biological Studies, La Jolla, California 92037.
McKenzie
K E
KE
White
C A
CA
Sukumar
S
S
D000328:Adult; D000368:Aged; D000483:Alleles; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D004260:DNA Repair; D005260:Female; D016158:Genes, p53; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation