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Frequent p53 Gene Mutations and Novel Alleles in Familial Breast Cancer¹

Salk Institute for Biological Studies, La Jolla, California 92037 [O. K. G., K. E. M., C. A. W., S. S.]; Scripps Memorial Hospitals Oncology Research Program, Encinitas, CA 92023 [C. A. W.]

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.

¹ This work was supported by USPHS Grants CA48943, CA57993, and ESO06094 and grants from the Foundation of Medical Research, Inc. (to S. S.).

² To whom requests for reprints should be addressed, at Salk Institute for Biological Studies, Molecular Biology of Breast Cancer Laboratory, 10010 N. Torrey Pines Rd., La Jolla, CA 92037.

Received 4/19/94. Accepted 5/26/94.

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