TP53

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

C. M. Camargo-Kosugi, D’Amora, P., Kleine, J. P. F. O., Carvalho, C. V., Sato, H., Schor, E., and Silva, I. D. C. G., “TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population”, vol. 13, pp. 6503-6511, 2014.

We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method.

TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population

A. S. Sameer, Shah, Z. A., Syeed, N., Banday, M. Z., Bashir, S. M., Bhat, B. A., and Siddiqi, M. A., “TP53 Pro47Ser and Arg72Pro polymorphisms and colorectal cancer predisposition in an ethnic Kashmiri population”, vol. 9, pp. 651-660, 2010.

Two TP53 gene polymorphisms at codon 47 (TP53 Pro47Ser) and at codon 72 (TP53 Arg72Pro) have been associated with susceptibility to various cancers. We carried out a case-control study and examined the genotype distribution of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms (SNPs), using a PCR-RFLP approach, to determine if these two SNPs are risk factors for colorectal cancer (CRC) development and to look for a possible correlation of these two SNPs with clinicopathological variables of CRC.

Influence of Arg72Pro polymorphisms of TP53 on the response of buccal cells to radiotherapy

L. Pereira, Carvalho, M. R. S., Fonseca, C. G., Lima, S. S. S., Cerqueira, E. M. M., Jorge, W., and Castro, M. C. L., “Influence of Arg72Pro polymorphisms of TP53 on the response of buccal cells to radiotherapy”, vol. 10. pp. 3552-3558, 2011.

Polymorphisms in the TP53 gene codon 72 (Arg72Pro) influence apoptosis induction and DNA damage repair. We evaluated how variants of protein p53 (p53Arg and p53Pro) affect cell death and DNA damage repair by analyzing the frequencies of karyorrhexis and micronuclei. There were significant differences in the frequency of karyorrhexis between the three p53 genotypes (Arg/Arg, Arg/Pro, and Pro/Pro), between samples taken before and after radiotherapy, and between patients and controls. The frequency of micronucleated cells increased significantly after radiotherapy.

Polymorphisms and DNA methylation of gene TP53 associated with extra-axial brain tumors

L. O. Almeida, Custódio, A. C., Pinto, G. R., Santos, M. J., Almeida, J. R. W., Clara, C. A., Rey, J. A., and Casartelli, C., “Polymorphisms and DNA methylation of gene TP53 associated with extra-axial brain tumors”, vol. 8, pp. 8-18, 2009.

The p53 tumor suppressor gene is the most frequently mutated gene in human cancer; this gene is mutated in up to 50% of human tumors. It has a critical role in the cell cycle, apoptosis and cell senescence, and it participates in many crucial physiological and pathological processes. Polymorphisms of p53 have been suggested to be associated with genetically determined susceptibility in various types of cancer. Another process involved with the development and progression of tumors is DNA hypermethylation.

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