J Breast Cancer.  2014 Mar;17(1):1-7.

Patterns and Biologic Features of p53 Mutation Types in Korean Breast Cancer Patients

• Kim HW
• Lee HM
• Hwang SH
• Ahn SG
• Lee KA
• Jeong J

Abstract

PURPOSE
The p53 gene is one of the most frequently mutated genes in breast cancer. We investigated the patterns and biologic features of p53 gene mutation and evaluated their clinical significance in Korean breast cancer patients.
METHODS
Patients who underwent p53 gene sequencing were included. Mutational analysis of exon 5 to exon 9 of the p53 gene was carried out using polymerase chain reaction-denaturing high performance liquid chromatography and direct sequencing.
RESULTS
A total of 497 patients were eligible for the present study and p53 gene mutations were detected in 71 cases (14.3%). Mutation of p53 was significantly associated with histologic grading (p<0.001), estrogen receptor and progesterone receptor status (p<0.001), HER2 status (p<0.001), Ki-67 (p=0.028), and tumor size (p=0.004). The most frequent location of p53 mutations was exon 7 and missense mutation was the most common type of mutation. Compared with patients without mutation, there was a statistically significant difference in relapse-free survival of patients with p53 gene mutation and missense mutation (p=0.020, p=0.006, respectively). Only p53 missense mutation was an independent prognostic factor for relapse-free survival in multivariate analysis, with an adjusted hazard ratio of 2.29 (95% confidence interval, 1.08-4.89, p=0.031).
CONCLUSION
Mutation of the p53 gene was associated with more aggressive clinicopathologic characteristics and p53 missense mutation was an independent negative prognostic factor in Korean breast cancer patients.

Keyword

Breast neoplasms; Mutation; p53 Genes

MeSH Terms

Breast Neoplasms*
Breast*
Chromatography, Liquid
Estrogens
Exons
Genes, p53
Humans
Multivariate Analysis
Mutation, Missense
Receptors, Progesterone
Estrogens
Receptors, Progesterone

Figure

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  Figure 1 Types of p53 gene mutations in 71 patients.

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  Figure 2 Locations of p53 gene mutations in 71 patients.

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  Figure 3 Kaplan-Meier relapse-free survival curve according to p53 missense mutation.

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