Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800625
rs1800625
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation BEFREE <b>Conclusions:</b><i>RAGE</i> gene SNP rs1800625 was significantly associated with gastric cancer risk, and rs1800625 and rs184003 were related to tumor clinical stage, indicating that <i>RAGE</i> gene may be a gastric cancer-susceptibility gene. 30719146

2019

dbSNP: rs4072037
rs4072037
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE <b>Conclusion:</b> MUC1 rs4072037 polymorphism is associated with decreased cancer risk and can probably be used as a tumor marker, especially for gastric cancer and for Asians. 30271495

2018

dbSNP: rs184003
rs184003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 GeneticVariation BEFREE <b>Conclusions:</b><i>RAGE</i> gene SNP rs1800625 was significantly associated with gastric cancer risk, and rs1800625 and rs184003 were related to tumor clinical stage, indicating that <i>RAGE</i> gene may be a gastric cancer-susceptibility gene. 30719146

2019

dbSNP: rs2498804
rs2498804
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE <b>Results:</b> In an analysis of 97 LARC patients, the G/T+G/G genotype of AKT1:rs2498804 was associated with an increased tumor response rate (adjusted OR = 2.909, 95% confidence interval (CI), 1.127-7.505, P = 0.027). 29581786

2018

dbSNP: rs121434569
rs121434569
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE <i>EGFR</i> T790M Detection in Circulating Tumor DNA from Non-small Cell Lung Cancer Patients Using the PNA-LNA Clamp Method. 28476851

2017

dbSNP: rs1057519697
rs1057519697
ALK
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE <i>In vitro</i> prostate cell line/organoid models were generated by lentiviral-mediated expression of ALK and ALK F1174C and assessed for response to ALK inhibitors crizotinib and alectinib.<b>Results:</b> NGS analysis of the primary tumor and ctDNA of a 39-year-old patient with refractory SSCP identified <i>ALK</i> F1174C mutation. 29559559

2018

dbSNP: rs2267437
rs2267437
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE (XRCC6) rs2267437 appeared as a risk factor for developing more aggressive PCa tumors. 26754263

2016

dbSNP: rs104893829
rs104893829
VHL
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.720 GeneticVariation BEFREE 1) Clinical evaluation of known variant carriers: We evaluated a family of five VHL p.P81S carriers, as well as the clinical characteristics of all the p.P81S carriers reported in the literature; 2) Evaluation of tumor tissue via genetic analysis, histology, and immunohistochemistry (IHC); 3) Assessment of the variant's impact on protein structure and function, using multiple databases, in silico algorithms, and reports of functional studies. 28503092

2017

dbSNP: rs727503094
rs727503094
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE 44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C. 27591291

2016

dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE 44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C. 27591291

2016

dbSNP: rs104894230
rs104894230
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE 44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C. 27591291

2016

dbSNP: rs9503518
rs9503518
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE 77.2% of patients were homozygote for genotype rs9503518-AA and they most frequently had histological grade 2 and 3 tumors. 29703252

2018

dbSNP: rs781172058
rs781172058
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation BEFREE 801A carrier status (801G/A, 801A/A) was found to be associated with a higher PBB count compared with 801G/G homozygous patients (P=0.031) and higher frequency of extramedullar tumor sites (odds ratio 2.92, 95% confidence interval 1.18-7.21, P=0.018). 16818471

2006

dbSNP: rs766914563
rs766914563
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation BEFREE 801A carrier status (801G/A, 801A/A) was found to be associated with a higher PBB count compared with 801G/G homozygous patients (P=0.031) and higher frequency of extramedullar tumor sites (odds ratio 2.92, 95% confidence interval 1.18-7.21, P=0.018). 16818471

2006

dbSNP: rs371074389
rs371074389
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation BEFREE 801A carrier status (801G/A, 801A/A) was found to be associated with a higher PBB count compared with 801G/G homozygous patients (P=0.031) and higher frequency of extramedullar tumor sites (odds ratio 2.92, 95% confidence interval 1.18-7.21, P=0.018). 16818471

2006

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway. 16960555

2007

dbSNP: rs121913377
rs121913377
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway. 16960555

2007

dbSNP: rs1418810723
rs1418810723
FN1
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation BEFREE Tumor-derived fibronectin is involved in melanoma cell invasion and regulated by V600E B-Raf signaling pathway. 16960555

2007

dbSNP: rs397507828
rs397507828
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor DNA of a serous borderline ovarian tumor (sBOT) of a 55-year-old female carrier of a pathogenic BRCA2 mutation (6085G>T) was analyzed for loss of heterozygosity (LOH) of BRCA2. 17386038

2007

dbSNP: rs121913412
rs121913412
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.070 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788

2008

dbSNP: rs201362232
rs201362232
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788

2008

dbSNP: rs1356757839
rs1356757839
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788

2008

dbSNP: rs121913407
rs121913407
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788

2008

dbSNP: rs1459684511
rs1459684511
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level. 18419788

2008

dbSNP: rs138551214
rs138551214
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Tumor tissue from the G787R variant case manifested loss of heterozygosity, with loss of the wild-type allele, supporting a tumor suppressor role for EPHB2 in rare colorectal cancer cases. 18682749

2008