rs1353702185, MDM2

N. diseases: 79
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156 2006
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. 17387621 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE The p53 Arg72Pro and MDM2 -309 polymorphisms and risk of breast cancer in the nurses' health studies. 17387621 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539 2007
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.020 GeneticVariation BEFREE Polymorphisms of p53 Arg(72)Pro and p21 Ser(31)Arg did not show significant association with RCC. 17634539 2007
Gastric Cardia Adenocarcinoma
CUI: C1333762
Disease: Gastric Cardia Adenocarcinoma
0.010 GeneticVariation BEFREE This study examined the effect of P53 Arg72Pro variants on transactivation of polymorphic MDM2 promoter (T309G) and their associations with risk of developing gastric cardia adenocarcinoma (GCA) in a Chinese population. 17638920 2007
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
0.010 GeneticVariation BEFREE This study examined the effect of P53 Arg72Pro variants on transactivation of polymorphic MDM2 promoter (T309G) and their associations with risk of developing gastric cardia adenocarcinoma (GCA) in a Chinese population. 17638920 2007
Gastric Cardia Carcinoma
CUI: C1333763
Disease: Gastric Cardia Carcinoma
0.010 GeneticVariation BEFREE Interaction of P53 Arg72Pro and MDM2 T309G polymorphisms and their associations with risk of gastric cardia cancer. 17638920 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE Neither combined nor homozygous/heterozygous MDM-2 SNP309G was associated with total, premenopausal, or postmenopausal breast cancer risk; however, MDM-2 SNP309G, along with p53 Arg72Pro heterozygous variant, showed a significant protective association with premenopausal breast cancer risk (odds ratio [95% confidence interval]: 0.18 [0.02-1.20], p value; 0.041 for homozygous + heterozygous MDM-2 SNP309G). 17719241 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Neither combined nor homozygous/heterozygous MDM-2 SNP309G was associated with total, premenopausal, or postmenopausal breast cancer risk; however, MDM-2 SNP309G, along with p53 Arg72Pro heterozygous variant, showed a significant protective association with premenopausal breast cancer risk (odds ratio [95% confidence interval]: 0.18 [0.02-1.20], p value; 0.041 for homozygous + heterozygous MDM-2 SNP309G). 17719241 2008
Premenopausal breast cancer
CUI: C0741682
Disease: Premenopausal breast cancer
0.010 GeneticVariation BEFREE The results indicate protective associations of p53 Arg72Pro heterozygous variant with postmenopausal and MDM-2 SNP309G along with p53 Arg72Pro heterozygous variant with premenopausal breast cancer risk. 17719241 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.100 GeneticVariation BEFREE In conclusion, in this large collaborative study, we did not find an association of MDM2 SNP309 and TP53 R72P, separately or in interaction, with breast cancer. 17909070 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In conclusion, in this large collaborative study, we did not find an association of MDM2 SNP309 and TP53 R72P, separately or in interaction, with breast cancer. 17909070 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Previous studies have suggested associations between variants in TP53 (R72P) and MDM2 (SNP309) and cancer risk. 17909070 2007
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Previous studies have suggested associations between variants in TP53 (R72P) and MDM2 (SNP309) and cancer risk. 17909070 2007
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
Neoplasms
CUI: C0027651
Disease: 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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.050 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844 2008
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.010 GeneticVariation BEFREE Thus, MDM2 SNP 309 and p53 Arg72Pro are associated with the early development of HCC in Korean patients with chronic HBV infection. 18390844 2008
Treatment related acute myeloid leukaemia
0.010 GeneticVariation BEFREE MDM2 SNP309 and TP53 Arg72Pro interact to alter therapy-related acute myeloid leukemia susceptibility. 18426989 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Recent studies have shown that functional polymorphisms at the MDM2 SNP309 T/G and p53 Arg72Pro may be associated with cancer susceptibility. 18575717 2008
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Recent studies have shown that functional polymorphisms at the MDM2 SNP309 T/G and p53 Arg72Pro may be associated with cancer susceptibility. 18575717 2008