rs1353702185, MDM2

N. diseases: 79
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402 2015
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402 2015
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE A hundred HIV-infected women were examined for HPV detection and its genotypes, as well as the frequencies of the SNPs Arg72Pro and SNP309 and their associations with CC risk factors. 25181402 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Allele 399Gln (OR 1.57; 95% CI 1.05-2.35), Arg399Gln of gene XRCC1 heterozygous genotype (OR 2.77; 95% CI 1.60-4.80), the combination of Arg399Gln/Arg72Pro of genes XRCC1/TP53 heterozygous genotype (OR 3.98; 95% CI 1.57-10.09), Arg399Gln/T309G of genes XRCC1/MDM2 (OR 3.0; 95% CI 1.18-7.56), as well as Arg399Gln/Arg72Pro/T309G of genes XRCC1/TP53/MDM2 (OR 6.40; 95% CI 1.18-34.63) were associated with BC in Kyrgyz women. 29132330 2017
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Allele 399Gln (OR 1.57; 95% CI 1.05-2.35), Arg399Gln of gene XRCC1 heterozygous genotype (OR 2.77; 95% CI 1.60-4.80), the combination of Arg399Gln/Arg72Pro of genes XRCC1/TP53 heterozygous genotype (OR 3.98; 95% CI 1.57-10.09), Arg399Gln/T309G of genes XRCC1/MDM2 (OR 3.0; 95% CI 1.18-7.56), as well as Arg399Gln/Arg72Pro/T309G of genes XRCC1/TP53/MDM2 (OR 6.40; 95% CI 1.18-34.63) were associated with BC in Kyrgyz women. 29132330 2017
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Although the p53 R72P SNPs and MDM2 SNP309 did not associate with any of the parameters studied, the BAX G125A SNPs was associated with a more advanced Binet stage at diagnosis, supporting a potential role for this variant in CLL disease progression. 17981213 2007
Solid Neoplasm
CUI: C0280100
Disease: Solid Neoplasm
0.010 GeneticVariation BEFREE Among the natural sequence variants of TP53, rs1042522 (R72P) modifies the risk for solid tumors. 19837266 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
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
Breast Carcinoma
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
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.020 GeneticVariation BEFREE Association of MDM2 SNP309 and TP53 Arg72Pro polymorphisms with risk of endometrial cancer. 23624782 2013
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.020 GeneticVariation BEFREE Association of MDM2 SNP309 and TP53 Arg72Pro polymorphisms with risk of endometrial cancer. 23624782 2013
Gastroesophageal reflux disease
CUI: C0017168
Disease: Gastroesophageal reflux disease
0.010 GeneticVariation BEFREE Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. 23735059 2013
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
0.020 GeneticVariation BEFREE Association of MDM2 T309G and p53 Arg72Pro polymorphisms and gastroesophageal reflux disease with survival in esophageal adenocarcinoma. 23735059 2013
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE Association of p53 Arg72Pro and MDM2 SNP309 polymorphisms with glioma. 23096687 2012
HIV Infections
CUI: C0019693
Disease: HIV Infections
0.010 GeneticVariation BEFREE Crude and adjusted associations involving each exposure (R72P and T309G SNPs, as well as 13 models of epistasis) and each outcome (HPV status, HPV oncogenic risk group and HIV infection) were assessed using logistic regression. 24586820 2014
Neoplasms
CUI: C0027651
Disease: 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
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.020 GeneticVariation BEFREE Evaluation of TP53 Pro72Arg and MDM2 SNP285-SNP309 polymorphisms in an Italian cohort of LFS suggestive patients lacking identifiable TP53 germline mutations. 26956143 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 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
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Here we showed that the risk of ESCC was elevated in subjects with any of the variant genot</span>ypes of PTEN rs2735343 and P53 Arg</span>72Pro polymorphisms, but not any genotype of MDM2 or PTEN rs701848. 22336889 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4,701 invasive cases from four data sets. 23034890 2013
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Here, we investigated the effect on breast cancer survival of germline variation in these genes in 925 Finnish breast cancer patients and further analyzed five single nucleotide polymorphisms (SNPs) in PRKAG2 (rs1029946, rs4726050, rs6464153, rs7789699) and PPP2R2B (rs10477313) for 10-year survival in breast cancer patients, interaction with TP53 R72P and MDM2-SNP309, outcome after specific adjuvant therapy and correlation to tumor characteristics in 4,701 invasive cases from four data sets. 23034890 2013
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE However, the results obtained from the combination of SNPs 344T>A of MDM2 and 72 Arg/Pro of p53, do not support the hypothesis of the prominent role of common p53 and MDM2 variations in the genetic mechanisms of chemotherapy resistance in breast cancer. 27569097 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE However, the results obtained from the combination of SNPs 344T>A of MDM2 and 72 Arg/Pro of p53, do not support the hypothesis of the prominent role of common p53 and MDM2 variations in the genetic mechanisms of chemotherapy resistance in breast cancer. 27569097 2016
Neoplasms
CUI: C0027651
Disease: 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