Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231142
rs2231142
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE This study demonstrates that the ABCG2 Q141K polymorphism may correlate with chemotherapy-induced diarrhea in patients with DLBCL who have received frontline R-CHOP chemotherapy, and this has implications for optimizing treatment with such agents. 19032367

2008

dbSNP: rs2231142
rs2231142
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE ABCG2 Q141K polymorphism is associated with chemotherapy-induced diarrhea in patients with diffuse large B-cell lymphoma who received frontline rituximab plus cyclophosphamide/doxorubicin/vincristine/prednisone chemotherapy. 19032367

2008

dbSNP: rs2231142
rs2231142
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate transporter SNPs to be further investigated as possible predictors of the clinical outcome of chemotherapy in lung cancer patients. 19107936

2009

dbSNP: rs2231142
rs2231142
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate transporter SNPs to be further investigated as possible predictors of the clinical outcome of chemotherapy in lung cancer patients. 19107936

2009

dbSNP: rs2231142
rs2231142
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE In conclusion, this study prioritizes ABCC3 C-211T and ABCG2 C421A as candidate transporter SNPs to be further investigated as possible predictors of the clinical outcome of chemotherapy in lung cancer patients. 19107936

2009

dbSNP: rs2231142
rs2231142
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.800 GeneticVariation BEFREE Associations of the rs2231142 variant with serum uric acid levels and prevalence of gout and hyperuricaemia were examined. 20421215

2010

dbSNP: rs199976573
rs199976573
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 GeneticVariation BEFREE Moreover, Klf5 is not required for lung tumor formation in an inducible oncogenic K-Ras(G12D) mouse model of lung tumorigenesis, and non-small cell lung cancer patients expressing high levels of KLF5 (21/258) have a significantly better disease-specific survival than those with intermediate to no KLF5 expression. 20639455

2010

dbSNP: rs199976573
rs199976573
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE These data suggest that resveratrol inhibits pancreatic cancer stem cell characteristics in human and Kras(G12D) transgenic mice by inhibiting pluripotency maintaining factors and epithelial-mesenchymal transition. 21304978

2011

dbSNP: rs199976573
rs199976573
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE These data suggest that resveratrol inhibits pancreatic cancer stem cell characteristics in human and Kras(G12D) transgenic mice by inhibiting pluripotency maintaining factors and epithelial-mesenchymal transition. 21304978

2011

dbSNP: rs199976573
rs199976573
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Resveratrol inhibits the self-renewal capacity of pancreatic CSCs derived from human primary tumors and Kras(G12D) mice. 21304978

2011

dbSNP: rs1185675198
rs1185675198
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. 21655989

2011

dbSNP: rs1185675198
rs1185675198
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE The earwax-associated SNP c.538G>A (G180R) in ABCC11 is not associated with breast cancer risk in Europeans. 21655989

2011

dbSNP: rs6857600
rs6857600
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 GeneticVariation BEFREE Carriers of the SNP rs6857600 minor allele in ABCG2 was associated with a decrease in risk of B-cell lymphoma (B-NHL) overall (p < 0.001). 21918980

2012

dbSNP: rs2231142
rs2231142
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE Furthermore, a decreased risk of chronic lymphocytic leukemia (CLL) was associated with the ABCG2 rs2231142 variant (p = 0.0004), which could be replicated in an independent population. 21918980

2012

dbSNP: rs2231142
rs2231142
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE We found that the ABCG2 C421A polymorphism is a protective factor for developing cancer. 22937733

2012

dbSNP: rs2231142
rs2231142
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE We found that the ABCG2 C421A polymorphism is a protective factor for developing cancer. 22937733

2012

dbSNP: rs2231142
rs2231142
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.040 GeneticVariation BEFREE The results of the present study may indicate that the ABCG 421C>A genetic polymorphism influences the MMR of imatinib in patients with CML. 23117072

2013

dbSNP: rs2231142
rs2231142
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.800 GeneticVariation BEFREE The strongest association was detected at SLC22A12 rs505802 for uric acid (p=2.4×10(-50)) and ABCG2 rs2231142 for hyperuricemia (p3.6×10(-10)). 23238572

2013

dbSNP: rs2231142
rs2231142
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
0.800 GeneticVariation BEFREE Finally, we have demonstrated the utility of using small molecules to correct the Q141K defect in expression and function as a possible therapeutic approach for hyperuricemia and gout. 23493553

2013

dbSNP: rs4148149
rs4148149
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Our data suggest ABCG2 htSNPs rs2725264 (overall group and taxane-platinum combination group) and rs4148149 (gemcitabine-platinum combination group) were associated with OS in unresectable NSCLC patients treated with first-line platinum-based chemotherapy. 23689644

2015

dbSNP: rs2725264
rs2725264
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Our data suggest ABCG2 htSNPs r</span>s2725264 (overall group and taxane-platinum combination group) and rs4148149 (gemcitabine-platinum combination group) were associated with OS in unresectable NSCLC patients treated with first-line platinum-based chemotherapy. 23689644

2015

dbSNP: rs1305398818
rs1305398818
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 GeneticVariation BEFREE To study the possible mechanisms of S100P enhanced the chemosensitivity to oxaliplatin in gastric cancer cell lines. 23736016

2013

dbSNP: rs1305398818
rs1305398818
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE To study the possible mechanisms of S100P enhanced the chemosensitivity to oxaliplatin in gastric cancer cell lines. 23736016

2013

dbSNP: rs1305398818
rs1305398818
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE The effect of the protein S100P on biological characteristics of cancer is not clear, especially in gastric cancer. 23736016

2013

dbSNP: rs1305398818
rs1305398818
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The effect of the protein S100P on biological characteristics of cancer is not clear, especially in gastric cancer. 23736016

2013