Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771939956
rs771939956
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE <i>De novo</i> tumorigenesis was not significantly increased in either heterozygous (<i>p53<sup>334R/H</sup></i> ) or homozygous (<i>p53<sup>334H/H</sup></i> ) p53 R334H knockin mice compared with wild-type mice. 30042151

2018

dbSNP: rs573154688
rs573154688
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE <i>De novo</i> tumorigenesis was not significantly increased in either heterozygous (<i>p53<sup>334R/H</sup></i> ) or homozygous (<i>p53<sup>334H/H</sup></i> ) p53 R334H knockin mice compared with wild-type mice. 30042151

2018

dbSNP: rs1042522
rs1042522
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs878854066
rs878854066
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs878854066
rs878854066
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1131691014
rs1131691014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1131691014
rs1131691014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs886039484
rs886039484
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1057520001
rs1057520001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs886039484
rs886039484
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1057520001
rs1057520001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs879253942
rs879253942
Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE Liver metastases (n = 93) along with primary tumors (n = 48) were analyzed for K-Ras mutations (codons 12 and 13), p53 mutations (exons 4-9), p53 polymorphism (codon 72), thymidylate synthase (TS) polymorphism (28-bp repeats including G>C mutation), methylenetetrahydrofolate reductase polymorphism (677C>T, 1298A>C), thymidylate synthase (TS) activity, dihydropyrimidine dehydrogenase activity, folylpolyglutamate synthase activity, and p53 protein expression. 18676755

2008

dbSNP: rs121912664
rs121912664
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE Because protocols for cancer-risk management in Li-Fraumeni or related syndromes are debatable, extreme care should prevail in predictive testing of children for R337H. 19717094

2009

dbSNP: rs121912664
rs121912664
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE Because protocols for cancer-risk management in Li-Fraumeni or related syndromes are debatable, extreme care should prevail in predictive testing of children for R337H. 19717094

2009

dbSNP: rs28934571
rs28934571
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.800 GeneticVariation BEFREE HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). 21768053

2011

dbSNP: rs372201428
rs372201428
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation BEFREE Endometriosis is not associated with gene mutations for p53codon72, TNF-308 G/A, VEGF-1154G/A, SOD Ala16Val. 23167810

2013

dbSNP: rs1457582183
rs1457582183
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation BEFREE Endometriosis is not associated with gene mutations for p53codon72, TNF-308 G/A, VEGF-1154G/A, SOD Ala16Val. 23167810

2013

dbSNP: rs28934571
rs28934571
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.100 GeneticVariation BEFREE Hepatitis B virus genetic variation and TP53 R249S mutation in patients with hepatocellular carcinoma in Thailand. 23886144

2013

dbSNP: rs786204041
rs786204041
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor DNA analysis revealed TP53 pathogenic missense mutations (p.V197M, p.R213Q, p.R248W, and p.R337C) in four samples (12.9%). 24038938

2014

dbSNP: rs762846821
rs762846821
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Upregulation of pSTAT3 and phosphorylated AKT(pAKT) were observed in Kras(G12D) tumors with p53 deletion. 24260500

2013

dbSNP: rs878854066
rs878854066
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 GeneticVariation BEFREE Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). 24935583

2014

dbSNP: rs1131691014
rs1131691014
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 GeneticVariation BEFREE Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). 24935583

2014

dbSNP: rs1042522
rs1042522
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
0.010 GeneticVariation BEFREE Prostate adenocarcinoma is one of the leading causes of cancer related mortality in men but still limited knowledge is available about its associated functional SNPs including rs1042522 (Pro72Arg). 24935583

2014

dbSNP: rs55819519
rs55819519
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5. 26190195

2015