The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort

Abstract

Objective: Abrogation of the function of TP53 gene is supposed to lead to a more aggressive breast cancer phenotype that produces a less favorable clinical outcome. The p21 gene on chromosome 6p21.2 can be stimulated by an activated TP53 gene. A product of transcription, the p21 protein, an inhibitor of cyclin-dependent kinases, has its function in gene repair and angiogenesis during cell division, and can regulate apoptosis. The purpose of this analysis was to examine for an association between the genotypes measured on two single nucleotide polymorphisms (SNPs) located within the TP53 and p21 genes. Methods: In a clinical epidemiological case-control study, 814 individuals were recruited. 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). Results: For the variance in gene TP53 no significant differences between the control group and women with breast cancer could be estimated. For the variance in gene p21 a statistically significant association between the SNP measured within p21 and breast cancer status was observed. The odds ratio for the increased risk for those carrying the CA genotype as opposed to the CC genotype is 1.74 (95% confidence ratio = 1.00-3.05). Conclusion: Despite this finding p21 does not appear to act as an exclusive prognostic marker for breast cancer disease. © 2010 Springer-Verlag.