Abstract 2838: p53-R72P single nucleotide polymorphism is not associated with cancer risk, histopathologic features or clinical outcome in renal cell carcinoma in Caucasians

Aims: At codon 72, the human p53 gene contains a single nucleotide polymorphism (SNP), where the sequence can either read CGC, which encodes the amino acid arginine (R), or CCC which codes for proline (P). This SNP, p53-R72P, was found to affect numerous carcinogenesis related cell functions, like apoptosis, cell cycle progression, DNA repair, growth arrest and transcriptional activation. P53-R72 was found to be more effective at protecting stressed cells from neoplastic development. Significant associations of this variant to cancer development were found in various cell types, e.g. breast, gastric and lung cancer. No data are available for renal cell carcinoma (RCC). Methods: DNA extracted from formalin-fixed, paraffin-embedded normal tissue of 334 caucasian renal tumor patients (among them 157 affected by clear cell, 54 by papillary, 70 by chromophobe carcinoma and 41 by benign oncocytoma) and 196 controls was examined by restriction fragment length polymorphism (RFLP) using primers for PCR and the restriction enzyme BSTUI. After digestion, the length of the resulting bands was estimated by gel electrophoresis. Genotype distribution of both groups was compared by two sided exact Chi2 test. We also tested for associations of any genotype to histologic subtype, stage, nuclear grade, age at diagnosis, tumor-related survival and gender. Survival analysis was performed using log rank statistics. For examination of the potential influence of the presence or absence of the C allele, analyses were repeated with a combined C/C+CG group vs. G/G. Results: Genotype distribution of RCC or benign oncocytoma carriers and controls did not differ significantly, and there was no correlation of genotype and age of onset. We did not observe a significant acceleration of a certain genotype relative to gender, age group, subtype, stage or nuclear grade. Both tumor-related survival and progression free survival were not affected by genotype. Similar results were obtained when the two C allele carrying groups were pooled for analysis. Conclusions: The p53 R72P polymorphism does not seem to affect the risk of developing RCC or benign oncocytoma, the course of the disease, or histopathologic features in Caucasians. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 2838.