Analysis of p53 Gene Polymorphisms and Protein Over-expression in Patients with Breast Cancer

Akkiprik, Mustafa; Sönmez, Özgür; Güllüoğlu, Bahadır M.; Çağlar, Hale Başak; Kaya, Hakan; Demirkalem, Pakize; Abacıoğlu, Ufuk; Şengöz, Meriç; Sav, Aydın; Özer, Ayşe

doi:10.1007/s12253-008-9129-6

Cited by 39 publications

(44 citation statements)

References 28 publications

(36 reference statements)

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“…According to the literatures, there are differences in allele frequencies among ethnic or racial groups. The frequency of A2 allele (Minor allele frequency) was 22.1% in our population (Azeri-Iran), 23% in the Turkish population (Akkiprik et al, 2009), 30.8 in Arab (Alawadi et al, 2011, 29% Persian-Iran (Faghani et al, 2011), 19% in India (Sagne et al, 2013, 16% in German (Wang-Gohrke et al, 2002), 15% in Mediterranean countries and Northern Europe and14% in health women from United State (Sagne et al, 2013). A high frequency of A2 allele (22.1%) was found in our population.…”

Section: Discussionmentioning

confidence: 55%

Lack of Association of Intron 3 16 bp Polymorphism of TP53 with Breast Cancer among Iranian-Azeri Patients

Pouladi

Kouhsari²,

Feizi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Section: Discussionmentioning

confidence: 55%

Lack of Association of Intron 3 16 bp Polymorphism of TP53 with Breast Cancer among Iranian-Azeri Patients

Pouladi

Kouhsari²,

Feizi³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…Moreover, it has been shown that the Arg and Pro p53 variants have different half-lives and transcriptional properties in vitro. Nevertheless, some researchers have suggested the possibility that the presence of the Arg allele might be linked with a higher susceptibility to cancers associated with human papillomavirus infections (Guimaraes and Hainaut, 2002;Akkiprik et al, 2009), and other cancer types such as lung, hepatocellular, colorectal, and bladder cancer. We used clinical pathological feature analysis to investigate the polymorphisms at codons 11, 72, and 248 by comparing women with BC with healthy women.…”

Section: Introductionmentioning

confidence: 99%

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Almeida¹,

Kleine²,

Camargo-Kosugi³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 participants; the cancer-free control subjects were 26-72 years old (41 ± 11.03) and the BC patients were 28-80 years old (51 ± 10.70). We used standard polymerase chain reaction-restriction fragment length polymorphism and confirmed the results by genetic sequencing. In TP53*11, there was 100% homozygous Glu distribution in both groups. TP53*72 showed genotypic distribution: in the control group, there was 16.10% homozygous Pro, and 42.44% heterozygous and 41.46% homozygous Arg; in the BC group, there was 15.43% homozygous Pro, and 42.55% heterozygous and 42.02% homozygous Arg. The relative frequency of each allele was 0.37% for Pro and 0.63% for Arg in the control group, and 0.37% for Pro and 0.63% for Arg in the BC group. The nuclear grade (P = 0.0084) and adapted histological grade (P = 0.0265) were associated with TP53*72. The distribution of the codon 72 genotypes did not deviate from Hardy-Weinberg equilibrium in either group. In TP53*248, there was 100% homozygous Arg distribution in both groups. In codon 72, the Arg allele is the most prevalent in Brazilian women. TP53*72 may be associated with susceptibility to BC, although more studies are required to evaluate the profile of Brazilian women with BC.

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“…The role played by some polymorphic proteins in the pathogenesis remains under debate (15,(23)(24)(25).…”

Section: Discussionmentioning

confidence: 99%

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage

Moura

Kavalec²,

Doghman³

et al. 2010

Int J Oncol

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Abstract. The Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome, characterized by a wide spectrum of neoplasms, occurring in children and young adults. The identification of germline TP53 mutations in LFS has given rise to a number of in vitro studies using cultures of cancer cells and non-tumoral fibroblasts presenting germline TP53 mutations. In the present study, we performed a detailed documentation of the pedigree of an LFS family with a comprehensive analysis of genotype-phenotype correlations. We sequenced the TP53 gene and verified that the proband carries a germline nonsense mutation in codon 146 in one allele, the TP53 Arg72Pro polymorphism in the second, and other intronic polymorphisms in the TP53 gene. In order to investigate the disruption of the p53 function in a patient presenting this mutation and the TP53 Arg72Pro polymorphism who had so far suffered five malignant tumors and a benign meningioma, we tested her fibroblasts in response to DNA damage by evaluating the proliferation rate, apoptosis, and disruption of the TP53 pathway. The proband's heterozygous fibroblasts were not as efficient as control fibroblasts or those of her mother, who carried only the TP53 Arg72Pro polymorphism, in causing cell arrest and cell death after DNA damage, which was correlated with diminished TP21 protein levels.

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Analysis of p53 Gene Polymorphisms and Protein Over-expression in Patients with Breast Cancer

Cited by 39 publications

References 28 publications

Lack of Association of Intron 3 16 bp Polymorphism of TP53 with Breast Cancer among Iranian-Azeri Patients

Lack of Association of Intron 3 16 bp Polymorphism of TP53 with Breast Cancer among Iranian-Azeri Patients

Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage

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