Detection of base sequence changes in the CEBPD gene in human breast cancer cell lines and primary breast cancer isolates.

Single strand conformation polymorphism (SSCP) analysis was performed on genomic DNA from 97 human breast cancer samples and 10 breast cell lines to screen for mutations in the single exon C/EBPD gene. Three C --> T transitions resulting in silent mutations were detected in three individual breast cancer samples. One breast cancer sample also contained a G --> T transversion (Q253H). The SUM-52PE cell line contained an A --> T transversion (AAG --> TAG) resulting in a nonsense mutation (K180Stop). All mutations identified in genomic DNA isolates were in highly conserved regions of the C/EBPD gene. This study indicates that mutational alterations in the coding region of the C/EBPD gene are relatively uncommon in human breast cancer. Copyright 2003 Elsevier Science Ltd.