Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375328708
rs375328708
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE One silent change, C1257T, was found in a pancreatic carcinoma sample. 10079245

1999

dbSNP: rs199769221
rs199769221
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE A relevant contribution of the Arg117His-mutation to pathogenesis of pancreatic cancer might be possible, since also asymptomatic individuals have been reported to carry this mutation and individuals with only mild symptoms may be undiagnosed as hp. 11062709

2000

dbSNP: rs17107315
rs17107315
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.040 GeneticVariation BEFREE The N34S mutation of SPINK1 appears not to be a distinct genetic risk factor in patients with sporadic pancreatic cancer. 12649567

2003

dbSNP: rs17107315
rs17107315
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.040 GeneticVariation BEFREE The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group. 14560157

2003

dbSNP: rs1223231582
rs1223231582
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 GeneticVariation BEFREE The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group. 14560157

2003

dbSNP: rs104894094
rs104894094
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE As compared with the general population, the risk of pancreatic cancer (PC) was increased 9.4-fold [95% confidence interval (CI) 2.7-33.4] and 2.2-fold (95% CI 0.8-5.7) in G101W-positive and -negative MF, respectively, while mean ages at onset were 61 and 77 years, respectively. 14679123

2004

dbSNP: rs121913529
rs121913529
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.740 GeneticVariation BEFREE We find that physiological levels of Kras(G12D) induce ductal lesions that recapitulate the full spectrum of human pancreatic intraepithelial neoplasias (PanINs), putative precursors to invasive pancreatic cancer. 14706336

2003

dbSNP: rs762846821
rs762846821
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.050 GeneticVariation BEFREE Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines. 14978241

2004

dbSNP: rs121912651
rs121912651
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 GeneticVariation BEFREE Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines. 14978241

2004

dbSNP: rs121913343
rs121913343
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines. 14978241

2004

dbSNP: rs121912666
rs121912666
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE Using the whole-cell recording mode of the patch-clamp technique, functional ion channels were electrophysiologically characterized in PANC-1 (K-ras G12D (+/-), p53 R273C, Deltap16), BxPC-3 (smad4-, p53 Y220C, Deltap16), and MiaPaCa-2 [transforming growth factor-beta receptor type II defect, K-ras G12C(-/-), p53 R248W, Deltap16] human pancreatic cancer cell lines. 14978241

2004

dbSNP: rs17107315
rs17107315
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.040 GeneticVariation BEFREE To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation. 15084977

2004

dbSNP: rs1223231582
rs1223231582
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 GeneticVariation BEFREE To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation. 15084977

2004

dbSNP: rs111966833
rs111966833
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 GeneticVariation BEFREE The N34S and P55S mutations were determined by PCR amplification followed by solid-phase minisequencing in 116 patients with CP and in 188 with pancreatic cancer. 15764155

2005

dbSNP: rs397507444
rs397507444
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.050 GeneticVariation BEFREE We found that the C667T (but not the A1298C) polymorphism had a significant main effect on the risk of pancreatic cancer. 15941958

2005

dbSNP: rs74315364
rs74315364
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE The Glu265X mutation was identified in one (2.8%) familial and one (1.3%) sporadic pancreatic cancer case, but not in any of the controls. 15981205

2005

dbSNP: rs486907
rs486907
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE In familial pancreatic cancer no association between Arg462Gln genotypes and pancreatic cancer risk was evident. 15981205

2005

dbSNP: rs1217691063
rs1217691063
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.050 GeneticVariation BEFREE Joint effect between MTHFR C677T polymorphism and smoking or drinking increased risk of pancreatic cancer in a super-multiplicative manner. 16234002

2005

dbSNP: rs397507444
rs397507444
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.050 GeneticVariation BEFREE First, we performed a case-control study of germline MTHFR polymorphisms (C677T, A1298C) in 303 patients with pancreatic cancer and 305 matched control subjects. 16234003

2005

dbSNP: rs13181
rs13181
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.060 GeneticVariation BEFREE The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. 16458430

2007

dbSNP: rs1799793
rs1799793
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE We evaluated the association between the XPD exon 10 Asp(312)Asn and exon 23 Lys(751)Gln polymorphisms and the risk of pancreatic cancer in a hospital-based study of 344 patients and 386 controls frequency matched by age, gender, and race. 16458430

2007

dbSNP: rs1799782
rs1799782
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.060 GeneticVariation BEFREE We investigated the association between polymorphisms of MGMT (Leu(84)Phe and Ile(143)Val), APE1 (Asp(148)Glu), and XRCC1 (Arg(194)Trp and Arg(399)Gln) and risk of pancreatic cancer in a case-control study. 16844323

2006

dbSNP: rs25487
rs25487
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.040 GeneticVariation BEFREE We investigated the association between polymorphisms of MGMT (Leu(84)Phe and Ile(143)Val), APE1 (Asp(148)Glu), and XRCC1 (Arg(194)Trp and Arg(399)Gln) and risk of pancreatic cancer in a case-control study. 16844323

2006

dbSNP: rs2308321
rs2308321
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.020 GeneticVariation BEFREE We investigated the association between polymorphisms of MGMT (Leu(84)Phe and Ile(143)Val), APE1 (Asp(148)Glu), and XRCC1 (Arg(194)Trp and Arg(399)Gln) and risk of pancreatic cancer in a case-control study. 16844323

2006

dbSNP: rs12917
rs12917
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation BEFREE We investigated the association between polymorphisms of MGMT (Leu(84)Phe and Ile(143)Val), APE1 (Asp(148)Glu), and XRCC1 (Arg(194)Trp and Arg(399)Gln) and risk of pancreatic cancer in a case-control study. 16844323

2006