R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature

Abstract

ABSTRACT. The germline R337H mutation of the TP53 gene has been associated with the development of many tumor types. This systematic review of literature investigated the association between the R337H mutation and the patients' family history and its predictive and prognostic value in cancer. Data were collected from articles archived in the PubMed, LILACS, MEDLINE, IBECS, and SciELO databases. The systematic review of literature was performed on 12 selected articles, describing a total of 175,462 individuals tested for the R337H mutation, including 1548 individuals with cancer and 118 individuals with a family history of Li-Fraumeni and LiFraumeni-like syndrome. Eight studies showed an association between the mutation and a family history of cancer in 411 patients, including 390 cases of cancer among family members. Patients with the homozygous mutant genotype experienced cancer recurrence, progressive disease, secondary cancer, and a short survival rate. Heterozygous patients showed a better response to treatment and increased survival rates than did patients with 17035©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 17034-17043 (2015) R337H mutation of TP53 as a clinical marker in cancer the homozygous mutant genotype from newborns to adult patients. In conclusion, the R337H mutation has significant predictive and prognostic value and is associated with tumorigenesis of the adrenal cortex.

Toxicological Effects of Tobacco Compounds on the Expression of Genes Involved in Actinic Cheilitis

“…Although rare events considered, the presence of mutations "meaningless" or the deletion of both alleles of the gene TP53 prevents its translation due to the production of unstable proteins that interfere directly with its expression and detection. 34,35,37,40 Cluster 3 analysis also revealed that the cadmium has an intimate association in this direction (Figure 2 and Figure 3C). Experimental studies clearly show that cadmium is active in several cellular pathways by joining to induce the formation of benign and malignant tumors in several organs.…”

“…Its transcription factor interacts with at least six other genes. [34][35][36][37] For example, it binds to the promoter p21 gene whose protein product is a kinase inhibitor that blocks cyclin-dependent inactivation of Rb by CDK4. This activity promotes cell cycle arrest in G1 phase, so before there is a doubling of DNA (S phase), allowing the repair of damaged DNA.…”

“…In addition, p53 also promotes S G2 checkpoint, which depends on the integrity of the C-terminal domain of the gene. [37][38][39][40] de Carvalho Fraga CA, et al Dent Open J. 2017; 5(1): 11-18. doi: 10.17140/DOJ-5-136 In this sense, it can be inferred that mutation of the p53 gene in lesions caused by direct effects of ultraviolet light, is an independent mechanism, unlike oral leukoplakia that smoking and alcohol consumption are considered determinants.…”

Associação entre polimorfismos em genes relacionados à resposta inflamatória e a suscetibilidade, progressão e prognóstico do câncer gástrico

“…Além do polimorfismo mencionado acima, nosso estudo também investigou uma mutação germinativa (rs121912664) que ocasiona a troca do aminoácido Arg por His no códon 337 (éxon 10) desse gene, descrita inicialmente em pacientes com carcinoma adrenocortical pediátrico no Sul do Brasil (Ribeiro et al, 2001). Essa mutação tem sido associada a diversos tipos de câncer e tem sido mais estudada na região Sul do país, em Introdução que aparece com maior frequência (Assumpcao et al, 2008;Palmero et al, 2008;Borges, Ayres, 2015;Achatz, Zambetti, 2016), provavelmente devido a seu efeito fundador (Pinto et al, 2004;Garritano et al, 2010).…”

“…Nosso estudo também buscou descrever a presença da mutação rs121912664 de TP53 nessa amostra da população brasileira. Essa mutação tem sido associada a diferentes tipos de tumores e aparece com maior frequência na região Sul do Brasil (Assumpcao et al, 2008;Palmero et al, 2008;Borges, Ayres, 2015;Achatz, Zambetti, 2016), devido a um possível efeito fundador (Pinto et al, 2004;Garritano et al, 2010).…”