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: rs1000256867
rs1000256867
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0333875
Disease:
High-Grade Squamous Intraepithelial Lesions
0.010 GeneticVariation BEFREE The H85Y and E120D variants in E6 were significantly reduced in the high-grade squamous intraepithelial lesion (HSIL) group compared to the <HSIL group (P = .046 and .005), conversely the N29S in E7(P = .01). 31670402 2020
dbSNP: rs1011445550
rs1011445550
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Survivin -31C/G polymorphism and gastric cancer risk in a Brazilian population. 21161671 2011
dbSNP: rs1011445550
rs1011445550
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE Survivin -31C/G polymorphism and gastric cancer risk in a Brazilian population. 21161671 2011
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR 2009 version of the Chompret criteria for Li Fraumeni syndrome. 19652052 2009
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Inactive full-length p53 mutants lacking dominant wild-type p53 inhibition highlight loss of heterozygosity as an important aspect of p53 status in human cancers. 16861262 2007
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Dominant-negative p53 mutations selected in yeast hit cancer hot spots. 8633021 1996
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
dbSNP: rs1019340046
rs1019340046
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Interestingly, we observed a combinational effect between MDM4 rs4245739 and P53 Arg72Pro variants in attenuating breast cancer risk, highlighting the importance of the P53 tumor suppressor pathway genes during malignant transformation. 23793604 2013
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Cox regression analysis showed p53 Arg72Pro heterozygous genotype was overall an independent prognostic factor (Risk ratio of death, 2.2; P = 0.02), suggesting Pro72Pro genotype to be a potential risk factor favoring the development of lung carcinoma and that Arg72Pro genotype is independently associated with a poorer prognosis of lung cancer. 18181044 2008
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE This study implies an association of breast cancer risk with the p53 polymorphism Arg72Pro, but not with p73 G4A. 14634508 2003
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The findings of our case-control study and meta-analysis suggest a significant association between p53 Arg72Pro polymorphism and an increased risk of breast cancer in Indian population. 30065615 2018
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.100 GeneticVariation BEFREE The p53 R72P seems not to be a potential risk factor for development of GC among Iranian patients, but our data suggest that MDM2 SNP309 might modify the risk related to GC. 25227851 2014
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0302592
Disease:
Cervix carcinoma
0.100 GeneticVariation BEFREE Driven by findings that human papillomavirus (HPV)-induced degradation of p53 differs by a TP53 polymorphism at codon 72 (Pro72Arg), past studies of TP53 genetic variants and cervical cancer have focused on this nonsynonymous polymorphism, with mixed results. 19423538 2009
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0699791
Disease:
Stomach Carcinoma
0.100 GeneticVariation BEFREE The purpose of the present hospital-based case-control study was to investigate the association between the miR-34b/c rs4938723 and TP53 Arg72Pro polymorphisms and the risk of gastric cancer. 25190020 2014
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1306459
Disease:
Primary malignant neoplasm
0.100 GeneticVariation BEFREE Arg72Pro SNP of p53 has been associated with many types of cancer as well as with survival and longevity. 22116280 2011
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
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: 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
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
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
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006826
Disease:
Malignant Neoplasms
0.100 GeneticVariation BEFREE Single Nucleotide Polymorphisms (SNPs) of P53 Pro72Arg, MDM2 SNP309, P21 Ser31Arg, ER SNP594, HER2 Ile655Val, and FGFR2 rs2981582 have drawn attention as genetic factors associated with cancer risk. 31759353 2019
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our results suggest that TP53 c.215G>C, p. (Arg72Pro) polymorphism may be considered as a genetic marker for predisposition to BC in Moroccan population. 29949804 2018
dbSNP: rs1042522
rs1042522
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE Statistical analyses revealed that polymorphisms and haplotypes in the TP53 gene, including Arg72Pro, were not significantly associated with lung cancer in a Korean population. 18363031 2008