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Li-Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is a prototypic cancer susceptibility syndrome, resulting from germline pathogenic variants in the tumor suppressor gene,...
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The association of polymorphic markers Arg399Gln of XRCC1 gene, Arg72Pro of TP53 gene and T309G of MDM2 gene with breast cancer in Kyrgyz females
BackgroundThe association of genes XRCC1, TP53 and MDM2 with breast cancer (BC) has never been tested in Kyrgyz population. We, therefore, aimed to...
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Next-generation sequencing of patients with congenital anosmia
We performed whole exome or genome sequencing in eight multiply affected families with ostensibly isolated congenital anosmia. Hypothesis-free...
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Evaluation of TP53 Pro72Arg and MDM2 SNP285–SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations
Li-Fraumeni syndrome (LFS) is a rare genetic cancer predisposition disease, partly determined by the presence of a TP53 germline mutation; lacking...
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SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers
BackgroundThe functional single nucleotide polymorphism (SNP) in the MDM2 promoter region, SNP309, is known to be associated with various diseases,...
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Murine Double-Minute 2 Homolog Single Nucleotide Polymorphisms 285 and 309 in Cervical Carcinogenesis
Background and ObjectiveIn Caucasians, the MDM2 single nucleotide polymorphism (SNP) 285 G>C (rs117039649) neutralizes the effect of 309 T>G...
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Interaction between p53 codon 72 and MDM2 309T>G polymorphisms and the risk of hepatocellular carcinoma
The p53 tumor suppressor and its negative regulator, murine double minute 2 ( MDM2 ), play critical roles in carcinogenesis. P53 codon 72 and MDM2 ...
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MDM2 285G>C and 344T>A gene variants and their association with hepatocellular carcinoma: a Moroccan case–control study
BackgroundMDM2 gene polymorphisms 285G/C and 344 T/A are two single nucleotide polymorphisms (SNPs) recently identified as important variants that...
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Association of p53 and mdm2 in the development and progression of non-small cell lung cancer
MDM2 protein is an important regulator of the p53 pathway and has a large effect on the anti-tumorigenic activity of the p53. Presently, we aimed to...
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MDM2 polymorphism associated with the development of cervical lesions in women infected with Human papillomavirus and using of oral contraceptives
BackgroundThe MDM2 gene is the major negative regulator of p53, a tumor suppressor protein. Single nucleotide polymorphism in promoter region of MDM2 ...
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Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers
BackgroundWhile BRCA mutation carriers possess a 20-40% lifetime risk of develo** ovarian cancer, knowledge about genetic modifying factors...
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MDM2 SNP309, gene-gene interaction, and tumor susceptibility: an updated meta-analysis
BackgroundThe tumor suppressor gene p53 is involved in multiple cellular pathways including apoptosis, transcriptional control, and cell cycle...
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MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism
IntroductionA functional polymorphism within MDM2, SNP309 T>G, has been linked to early onset cancer. This study examined clinical associations of...
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p53 polymorphisms: cancer implications
The normal functioning of p53 is a potent barrier to cancer. Tumour-associated mutations in TP53 , typically single nucleotide substitutions in the...
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Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours
Chromosome 1p is frequently deleted in neuroblastoma (NB) tumours. The commonly deleted region has been narrowed down by loss of heterozygosity...
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The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses’ health studies
Candidate gene association studies to detect breast cancer susceptibility loci have yielded few positive associations. Therefore, it is more likely...