Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Results indicated that Arg72Pro is associated with higher susceptibility to cancer in some tumor sites, mainly hepatocarcinoma. 20886596

2011

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE To evaluate the significance of the TP53 mutation as a molecular marker to predict the prognosis of CRC patients, especially those who received postoperative chemotherapy, we examined the mutation by direct sequencing from fresh CRC tumors and evaluated the R72P polymorphism of the mutated TP53 by a combined mutant allele- and polymorphic allele-specific polymerase chain reaction (PCR). 19954513

2009

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA. 28351583

2017

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Polymorphisms were identified within the TP53 (R72P and Ins16) and MDM2 (SNP309) genes that may further diminish TP53 tumor suppressor activity. 19046423

2008

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694

2005

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. 25292094

2014

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The TP53 R72P polymorphism was not linked to tumor location, histologic grade, lymph node metastases, Dukes stage, p53 positivity, or age at diagnosis, but to tumor size. 17599946

2007

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome. 16258005

2006

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE In addition, the TP53 R72P polymorphism and chromosome 1p/19q status, a major biomarker in oligodendroglial t</span>umors, were investigated. 18262501

2008

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Patients who had the allele Pro of the TP53 Arg72Pro polymorphism had an increased risk of tumor development (odds ratio, OR = 3.23; confidence interval at 95%, 95%CI = 1.71-6.08; P = 0.003), as did the allele Ser of TP53 Pro47Ser polymorphism (OR = 1.28; 95%CI = 0.03-2.10; P = 0.01). 19224462

2009

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Genetic data revealed that the p53 Arg72Pro genotype was found to be greatly associated with breast cancer risk (p<0.001), as well as tumor site (p=0.046). 25750340

2015

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The polymorphism rs1042522 at codon 72 of the TP53 tumour-suppressor gene has been investigated as a genetic cofactor. 19625214

2009

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE There have been inconsistent reports regarding increased risk of POAG and a polymorphism (Arg72Pro) within the tumor suppressor gene, p53. 19784392

2009

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Tissue culture and mouse model studies show that the presence of the arginine (R) or proline (P) coding single nucleotide polymorphism (SNP) of the tumor suppressor gene p53 at codon 72 (p53 R72P) differentially affects the responses to genotoxic insult. 28594296

2017

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Our results suggest that polymorphism Arg72Pro in tumor suppressor gene TP53 increases the risk of lung cancer. 18336951

2008

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Recently a polymorphism at codon 72 (R72P) in the tumour suppressor gene TP53 has been implicated in the age of disease onset in HNPCC. 16353134

2006

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE There was no evidence of such an effect on survival within the TP53-mutated tumor group for TP53 R72P carriers but a suggestion of an effect for MDM2 SNP309 carriers (GG vs. TT-genotype HR 2.99, P = 0.06). 21667122

2011

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA. 12684657

2003

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE In addition, we showed that BC patients with rs1042522 CC genotype were characterized by only unifocal tumors and decreased frequency of lymph node metastases (p=0.03). 21810023

2011

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms (SNP) in codon Arg72Pro of P53 results in impairment of the tumor suppressor activity of the gene. 23167335

2012

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. 20535124

2010

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The analyses indicate that MDM2 SNP309 serves as a tumor susceptibility marker, and that there is an association between MDM2 SNP309 and p53 Arg72Pro regarding tumor susceptibility. 21619694

2011

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Studies on the association of a polymorphism in codon 72 of the p53 tumour suppressor gene (rs1042522) with cervical neoplasia have inconsistent results. 23441193

2013