TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE RAD51 135G>C and TP53 Arg72Pro polymorphisms and susceptibility to breast cancer in Serbian women. 24114315 2014
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Therefore, we hypothesized that the genetic variants in these three genes influence the predisposition of lung cancer (i.e., CCND1 G870A, CDKN2A Ala(148)Thr, TP53 Arg(72)Pro, and 16-bp repeat in intron 3) and that the effect of X-ray on lung cancer risk can be modified by the presence of these genetic variations. 16912209 2006
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR=1.88; 95% CI 1.13-3.15; P=0.011), suggesting a possible interaction of these two loci. 15138483 2004
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE The HPV E6 oncoprotein binds to the tumor suppressor gene product p53, promoting its degradation; the Arg allele of p53 Arg72Pro polymorphism binds more ardently with HPV E6 than the Pro variant. 23065429 2012
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We performed a meta-analysis to evaluate the relationship between TP53 Arg72Pro polymorphism and lung cancer susceptibility basing on 15,647 lung cancer patients and 14,391 controls from 36 published literatures. 23595658 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE An increase in breast cancer-specific mortality was observed for carriers of the germline MDM2 SNP309 rare GG-genotype (range hazard ratios: 2-3) or TP53 R72P heterozygous GC-genotype (range hazard ratios: 1-2) compared to those having the common genotypes within subgroups of tumors displaying a "more aggressive phenotype" gene expression profile. 21667122 2011
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Epistatic interaction of Arg72Pro TP53 and -710 C/T VEGFR1 polymorphisms in breast cancer: predisposition and survival. 23716179 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Age of diagnosis of CRC in HNPCC patients is therefore more complex than that predicted by the R72P TP53 polymorphism alone, suggesting an inter-relationship with other genetic and/or environmental factors. 16353134 2006
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Thus, our current meta-analysis indicates no evidence for the association between the p53 Arg72Pro polymorphism and CRC risk in the Asian population, but significant association in Chinese population, especially for rectal cancer and in men. 30316510 2018
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The updated meta-analysis suggests that the p53 codon 72 Arg/Pro polymorphism is a risk factor for lung cancer in the Asian population. 23812725 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In this study, we investigated whether MDM2-SNP309 is associated with p53 R72P genetic polymorphism for the risk of breast cancer development in Asian Taiwanese, which has not been well-studied in this regard. 21479369 2011
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0025202
Disease:
melanoma
0.100 GeneticVariation BEFREE Our meta-analysis based on all studies shows that the p53 Arg72Pro polymorphism may increase individual susceptibility to CM, particularly in Caucasians and could serve as a biomarker to predict the population at high risk of CM. 25774791 2015
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306459
Disease:
Primary malignant neoplasm
0.100 GeneticVariation BEFREE A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers. 16419081 2006
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C4048328
Disease:
cervical cancer
0.100 GeneticVariation BEFREE The present hospital-based retrospective cohort study aimed to evaluate the influence of <i>TP53</i> Arg72Pro (rs1042522) polymorphism in the clinical outcome of 260 Caucasian patients diagnosed with cervical cancer and treated with concomitant radiotherapy and chemotherapy. 29731921 2018
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE The present study was undertaken to investigate the association of p53 Arg72Pro, Ins16bp and G13964C polymorphisms and their haplotypes with breast cancer risk in Tunisian women. 20233677 2010
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0302592
Disease:
Cervix carcinoma
0.100 GeneticVariation BEFREE The results indicated that the polymorphism in TP53 (rs1042522) might be associated with risk of cervical cancer development in HPV16 infected women. 23534750 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE We conclude that the TP53 R72P polymorphism may contribute to the etiology of colorectal cancer in the Chinese population, particularly among alcohol consumers. 17599946 2007
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.100 GeneticVariation BEFREE Association of mRNA expression of TP53 and the TP53 codon 72 Arg/Pro gene polymorphism with colorectal cancer risk in Asian population: a bioinformatics analysis and meta-analysis. 29872345 2018
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006826
Disease:
Malignant Neoplasms
0.100 GeneticVariation BEFREE Previous studies have suggested associations between variants in TP53 (R72P) and MDM2 (SNP309) and cancer risk. 17909070 2007
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our finding suggests that TP53 (Arg72Pro) polymorphism may play a significant role as risk factor for breast cancer in north Indian breast cancer patients. 26553387 2016
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C2239176
Disease:
Liver carcinoma
0.100 GeneticVariation BEFREE Two single nucleotide polymorphisms (SNPs) in the gene loci of p53 pathway, p53 codon 72 Arg72Pro and MDM2 SNP309 (T > G), have been shown to cause perturbation of p53 function, but the effect of the two SNPs on the risk of hepatocellular carcinoma (HCC) remains inconsistent. 23292895 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006826
Disease:
Malignant Neoplasms
0.100 GeneticVariation BEFREE Hence, this study explores the single and combined effects of cancer risk, age of onset and cancer type of three single nucleotide polymorphisms (SNPs)-TP53 Pro72Arg, MDM2 SNP285 and SNP309-already described as modifiers on TP53 mutation carriers but not properly investigated in LFS Suggestive patients. 26956143 2016
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C2239176
Disease:
Liver carcinoma
0.100 GeneticVariation BEFREE In subgroup analysis by ethnicity, the pooled results suggested that the p53 codon 72 Arg/Pro polymorphism was associated with an increased risk of HCC in Asians and Caucasians (for Asians, ORProPro vs. ArgArg + ArgPro=1.17 (95 % CI, 1.02-1.34), P OR=0.025; for Caucasians, ORProPro vs. ArgArg = 1.65 (95 % CI, 1.07-2.56), P OR=0.025; ORProPro vs. ArgArg + ArgPro=1.74 (95 % CI, 1.14-2.66), P OR=0.010). 23564481 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027651
Disease:
Neoplasms
0.100 GeneticVariation BEFREE The germ-line polymorphisms TP53 Arg72Pro and MDM2 SNP309 T>G are risk factors for tumor development and affect response to chemotherapy and survival in several cancers, but their prognostic and predictive value in patients with high-grade osteosarcomas is not yet defined. 19451596 2009
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE The amino acid replacement of arginine by proline at codon 72 of TP53 appears not to be important in determining lung cancer risk in this population. 11097227 2000