Detection of p53 gene mutations in fine-needle aspiration biopsied breast cancer specimens: correlations with nuclear p53 accumulations and tumor DNA aneuploidy patterns

Abstract Using the polymerase chain reaction and a single strand conformation polymorphism (PCR-SSCP) analysis, p53 gene mutations have been examined preoperatively in aspirated biopsy specimens from 22 breast cancers. In eight (36%) of the studied cases, abnormal bands indicating mutations were detected and were more frequently present in common invasive breast carcinomas. Eight of the breast cancer cases were found to be positive for mutations: direct DNA sequencing confirmed eight mutations and revealed G to A and A to G nucleotide changes in five (63%) and two (25%) cases, respectively. The mutations that were localized at the CpG site of the gene were seen in three cases. Additionally, an immunohistochemical investigation of the presence of the p53 protein and a DNA flow-cytometrical analysis of the 22 resected breast cancers were also performed. Nuclear p53 protein accumulations and a DNA aneuploidy pattern were detected in 11 (50%) cases and in 16 (73%)cases, respectively, and both significantly correlated with p53 gene mutations ( P P