Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2231142
rs2231142
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 GeneticVariation BEFREE No associations were observed between the BCRP C421A polymorphism and clinicopathologic or epidemiologic factors, including age, gender, tumor grade, stage, cigarette smoking, family history of cancer and body mass index. 15906349

2005

dbSNP: rs2231142
rs2231142
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 GeneticVariation BEFREE No associations were observed between the BCRP C421A polymorphism and clinicopathologic or epidemiologic factors, including age, gender, tumor grade, stage, cigarette smoking, family history of cancer and body mass index. 15906349

2005

dbSNP: rs2231142
rs2231142
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE No associations were observed between the BCRP C421A polymorphism and clinicopathologic or epidemiologic factors, including age, gender, tumor grade, stage, cigarette smoking, family history of cancer and body mass index. 15906349

2005

dbSNP: rs2231142
rs2231142
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Carriers with the C/C genotype of the BCRP C421A polymorphism are at risk of developing nonpapillary RCC. 15906349

2005

dbSNP: rs2231142
rs2231142
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Carriers with the C/C genotype of the BCRP C421A polymorphism are at risk of developing nonpapillary RCC. 15906349

2005

dbSNP: rs2231142
rs2231142
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
0.010 GeneticVariation BEFREE The ABCG2 421 C > A (Q141K) polymorphism may be an important predictor of response and survival in HRPC patients treated with docetaxel-based chemotherapy. 17062685

2006

dbSNP: rs2231142
rs2231142
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE One variant, a common functional single-nucleotide polymorphism (SNP) in the ABCG2 gene, was associated with diarrhea in 124 patients treated with oral gefitinib 250 mg once daily; seven (44%) of 16 patients heterozygous for ABCG2 421C>A (Q141K) developed diarrhea, versus only 13 (12%) of 108 patients homozygous for the wild-type sequence (P = .0046). 17148776

2006

dbSNP: rs2231142
rs2231142
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. 17180579

2007

dbSNP: rs2231142
rs2231142
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. 17180579

2007

dbSNP: rs2231137
rs2231137
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE These results suggest that the BCRP G34A and C421A polymorphisms are associated with the risk and survival of DLBCL. 17494054

2007

dbSNP: rs2231142
rs2231142
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE These results suggest that the BCRP G34A and C421A polymorphisms are associated with the risk and survival of DLBCL. 17494054

2007

dbSNP: rs2231142
rs2231142
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 GeneticVariation BEFREE Genotypic-phenotypic correlates showed a non-significant influence of UGT1A1*28 and ABCG2 c.421C>A polymorphisms on the pharmacokinetics of SN-38 (P > 0.05), as well as severity of neutropenia (P > 0.05). 17627617

2007

dbSNP: rs2231142
rs2231142
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 GeneticVariation BEFREE Genotypic-phenotypic correlates showed a non-significant influence of UGT1A1*28 and ABCG2 c.421C>A polymorphisms on the pharmacokinetics of SN-38 (P > 0.05), as well as severity of neutropenia (P > 0.05). 17627617

2007

dbSNP: rs2231142
rs2231142
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. 18243305

2008

dbSNP: rs2231137
rs2231137
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE To investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients. 18243305

2008

dbSNP: rs2231142
rs2231142
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 GeneticVariation BEFREE Increased exposure to PhIP may decrease survival, but the ABCG2 C421A polymorphism does not appear to increase the risk of prostate cancer. 18710444

2008

dbSNP: rs2231142
rs2231142
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Increased exposure to PhIP may decrease survival, but the ABCG2 C421A polymorphism does not appear to increase the risk of prostate cancer. 18710444

2008

dbSNP: rs2231142
rs2231142
androgen independent prostate cancer
0.010 GeneticVariation BEFREE Due to the expression of ABCG2 in the prostate, together with the purported role of dietary carcinogens and steroids in the development and progression of prostate cancer, 311 individuals were genotyped for the ABCG2 C421A SNP, 170 patients with androgen-independent prostate cancer (AIPC) and 141 'healthy' controls. 18710444

2008

dbSNP: rs2622621
rs2622621
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We found that heterozygous carriers of the minor alleles of SNPs rs2622621 and rs1481012 had a decreased risk of CRC, respectively, with odds ratios of 0.73 (95% confidence interval 0.56-0.94; P(value)=0.017), and 0.72 (95% CI 0.53-0.97; P(value)=0.03). 18775442

2008

dbSNP: rs1481012
rs1481012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE We found that heterozygous carriers of the minor alleles of SNPs rs2622621 and rs1481012 had a decreased risk of CRC, respectively, with odds ratios of 0.73 (95% confidence interval 0.56-0.94; P(value)=0.017), and 0.72 (95% CI 0.53-0.97; P(value)=0.03). 18775442

2008

dbSNP: rs2231142
rs2231142
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 GeneticVariation BEFREE Allele frequencies of the cyclooxygenase 2 (COX-2/PTGS2/PGHS2) G-765C and breast cancer resistance protein (BCRP/ABCG2) C421A as well as allele and haplotype frequencies of multidrug resistance 1 (MDR1, ABCB1) SNPs G2677T/A, C3435T and G-rs3789243-A (intron 3) were assessed in a Danish case-control study comprising 373 CD and 541 UC patients and 796 healthy controls. 18819034

2009

dbSNP: rs2231137
rs2231137
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.020 GeneticVariation BEFREE The Val12Met SNP in ABCG2 (encoding a transporter of sterols and xenobiotics) was associated with incident ischemic stroke in white and black participants of CHS. 19023099

2009

dbSNP: rs2231137
rs2231137
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation BEFREE The Val12Met SNP in ABCG2 was associated with stroke in both white (hazard ratio, 1.46; 90% CI, 1.05 to 2.03) and black (hazard ratio, 3.59; 90% CI, 1.11 to 11.6) participants of CHS. 19023099

2009

dbSNP: rs2231142
rs2231142
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.030 GeneticVariation BEFREE This study demonstrates that the ABCG2 Q141K </span>polymorphism may correlate with chemotherapy-induced di</span>arrhea in patients with DLBCL who have received frontline R-CHOP chemotherapy, and this has implications for optimizing treatment with such agents. 19032367

2008

dbSNP: rs2231137
rs2231137
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.030 GeneticVariation BEFREE No differences were observed according to ABCG2 Q141K and V12M genotype in patient characteristics, disease characteristics, response, survival, or hematology toxicity profiles in patients with DLBCL who received frontline R-CHOP chemotherapy. 19032367

2008