Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.030 GeneticVariation BEFREE XRCC1 T-77C polymorphism affects the genetic susceptibility for PTC development in men, the specific combination of XRCC1 haplotypes correlates with RET/PTC incidence, CDKN1B Val109Gly significantly influences the risk of developing PTC regardless of gender and in PTC cases, selected genotypes of TP53 Arg72Pro and ATM Asp1853Asn were significantly associated with monitored tumour characteristics. 27314298

2016

dbSNP: rs1042522
rs1042522
CUI: C0025202
Disease: melanoma
melanoma
0.100 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.070 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
0.020 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.020 GeneticVariation BEFREE XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro), and GSTP1 (Ile105Val) polymorphisms in prognosis of cutaneous melanoma. 26427666

2016

dbSNP: rs1042522
rs1042522
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.100 GeneticVariation BEFREE Women carrying the p53 Arg72Pro or p53 Pro72Pro increased the risk of cervical carcinoma (ORs and 95% CIs being 3.74 (2.65-5.30), 2.23 (1.49-3.34)). 19576684

2010

dbSNP: rs1042522
rs1042522
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.020 GeneticVariation BEFREE With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021). 22886512

2012

dbSNP: rs1042522
rs1042522
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.020 GeneticVariation BEFREE With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021). 22886512

2012

dbSNP: rs1042522
rs1042522
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
0.020 GeneticVariation BEFREE With regard to prognosis, disease-free survival was not significantly different among the TP53 Arg72Pro SNP</span> genotypes (P > 0.05), but the less frequent genotype (Pro/Pro) was associated with shorter overall survival of medulloblastoma patients (P = 0.021). 22886512

2012

dbSNP: rs1042522
rs1042522
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.090 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010

dbSNP: rs1042522
rs1042522
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.080 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010

dbSNP: rs1042522
rs1042522
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.080 GeneticVariation BEFREE When all 11 studies were pooled into the analysis, an increased esophageal cancer risk was significantly associated with the Pro variant of TP53 Arg72Pro in three genetic comparison models [odds ratio (OR)Pro vs. Arg=1.21, 95% confidence interval (CI): 1.05-1.39, POR=0.009; ORDominant genetic model=1.22, 95% CI: 1.09-1.37, POR=0.001; ORHomozygote model=1.40, 95% CI: 1.05-1.87, POR=0.024]. 20389250

2010

dbSNP: rs1042522
rs1042522
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We used real-time PCR method to investigate the genotypic frequencies of rs2602141, rs560191 and rs689647 in 53BP1 and rs1042522 in TP53 in 640 cases of lung cancer and 685 controls. 24316395

2014

dbSNP: rs1042522
rs1042522
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We used real-time PCR method to investigate the genotypic frequencies of rs2602141, rs560191 and rs689647 in 53BP1 and rs1042522 in TP53 in 640 cases of lung cancer and 685 controls. 24316395

2014

dbSNP: rs1042522
rs1042522
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We used real-time PCR method to investigate the genotypic frequencies of rs2602141, rs560191 and rs689647 in 53BP1 and rs1042522 in TP53 in 640 cases of lung cancer and 685 controls. 24316395

2014

dbSNP: rs1042522
rs1042522
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
Stage III Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
Stage IIB Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
Stage IIA Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE We therefore tested associations between CYP1A1 T3801C, CYP1A1 Ile462Val, GSTM1deletion, and TP53 Arg72Pro and GBC in Hungary. 18990008

2009

dbSNP: rs1042522
rs1042522
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (Ser31Arg) and smoking on lung cancer risk. 17059853

2007

dbSNP: rs1042522
rs1042522
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (Ser31Arg) and smoking on lung cancer risk. 17059853

2007

dbSNP: rs1042522
rs1042522
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (Ser31Arg) and smoking on lung cancer risk. 17059853

2007