Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12051350
rs12051350
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs1361241029
rs1361241029
PBK
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs138280963
rs138280963
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs1383461329
rs1383461329
0.010 GeneticVariation BEFREE The A16V (C→T) mutation in PRSS1, which encodes a cationic trypsinogen and has a mutation associated with hereditary pancreatitis and pancreatic adenocarcinoma, was observed in 40% (8/20) (7/17 of ETV6 translocation-positive and 1/3 of ETV6 translocation-negative secretory carcinomas). 31822803

2019

dbSNP: rs1435047610
rs1435047610
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs202003805
rs202003805
0.010 GeneticVariation BEFREE The A16V (C→T) mutation in PRSS1, which encodes a cationic trypsinogen and has a mutation associated with hereditary pancreatitis and pancreatic adenocarcinoma, was observed in 40% (8/20) (7/17 of ETV6 translocation-positive and 1/3 of ETV6 translocation-negative secretory carcinomas). 31822803

2019

dbSNP: rs764152905
rs764152905
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs770380303
rs770380303
0.010 GeneticVariation BEFREE We showed segregation of the c.4249A>G SMG1 variant in 3 affected relatives in a FPC kindred, and we found c.103G>A to be a recurrent SMG1 variant associating with PC in both the discovery and validation series. 31469826

2019

dbSNP: rs876658923
rs876658923
0.010 GeneticVariation BEFREE The A16V (C→T) mutation in PRSS1, which encodes a cationic trypsinogen and has a mutation associated with hereditary pancreatitis and pancreatic adenocarcinoma, was observed in 40% (8/20) (7/17 of ETV6 translocation-positive and 1/3 of ETV6 translocation-negative secretory carcinomas). 31822803

2019

dbSNP: rs121909235
rs121909235
0.010 GeneticVariation BEFREE Pancreatic adenocarcinoma with a germline PTEN p.Arg234Gln mutation. 28755079

2018

dbSNP: rs121913529
rs121913529
0.010 GeneticVariation BEFREE Mice harboring a G12D activating Kras mutation are among the most heavily studied models in the field of pancreatic adenocarcinoma (PDAC) research. miRNAs are differentially expressed in PDAC from patients and mouse models of PDAC. 27541609

2017

dbSNP: rs730881394
rs730881394
0.010 GeneticVariation BEFREE We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. 24090759

2013

dbSNP: rs773379832
rs773379832
0.010 GeneticVariation BEFREE We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. 24090759

2013

dbSNP: rs587778883
rs587778883
0.010 GeneticVariation BEFREE We report that changes in miR expression patterns during progression of normal tissues to invasive pancreatic adenocarcinoma in the p48-Cre/LSL-Kras(G12D) mouse model mirrors the miR changes observed in human pancreatic cancer tissues. miR-148a/b and miR-375 expression were found decreased whereas miR-10, miR-21, miR-100 and miR-155 were increased when comparing normal tissues, premalignant lesions and invasive carcinoma in the mouse model. 21738581

2011

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE Although, no statistically significant differences were observed in the distribution of MTHFR genotype or allele frequencies between patients and control groups, the results showed an increased frequency of homozygotes for MTHFR C677T polymorphism in chronic pancreatitis patients (14%) and a decreased frequency in pancreatic adenocarcinoma patients (5%) in comparison to the control group (8%). 18636416

2008

dbSNP: rs1800067
rs1800067
0.010 GeneticVariation BEFREE Carriers of one or two XPF/ERCC4 minor alleles at R415Q had decreased risk of pancreatic adenocarcinoma compared with those who had two major alleles [odds ratio (OR), 0.59; 95% confidence interval (95% CI), 0.40-0.85]. 18544627

2008

dbSNP: rs750040814
rs750040814
XPC
0.010 GeneticVariation BEFREE Carriers of one or two XPF/ERCC4 minor alleles at R415Q had decreased risk of pancreatic adenocarcinoma compared with those who had two major alleles [odds ratio (OR), 0.59; 95% confidence interval (95% CI), 0.40-0.85]. 18544627

2008

dbSNP: rs1444669684
rs1444669684
0.010 GeneticVariation BEFREE Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreas. 17349581

2007

dbSNP: rs1799945
rs1799945
0.010 GeneticVariation BEFREE Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma. 17666895

2007

dbSNP: rs1800562
rs1800562
0.010 GeneticVariation BEFREE Although hemochromatosis is associated with pancreatic pathology, the p.C282Y and p.H63D variants do not play a significant role in the pathogenesis of chronic pancreatitis or pancreatic adenocarcinoma. 17666895

2007

dbSNP: rs762846821
rs762846821
0.010 GeneticVariation BEFREE Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreas. 17349581

2007

dbSNP: rs1370376642
rs1370376642
0.010 GeneticVariation BEFREE Numerous genes were identified as being differentially expressed, some of which have been previously implicated in pancreatic adenocarcinoma (S100P, S100A4, prostate stem cell antigen, lipocalin 2, claudins 3 and 4, trefoil factors 1 and 2) as well as several novel genes. 15305381

2004

dbSNP: rs17107315
rs17107315
0.010 GeneticVariation BEFREE We conclude that the N34S polymorphism of SPINK1 and the 5T and DF508 CFTR polymorphisms do not predispose to the development of pancreatic adenocarcinoma. 14688470

2004

dbSNP: rs25487
rs25487
0.010 GeneticVariation BEFREE A population-based study of the Arg399Gln polymorphism in X-ray repair cross- complementing group 1 (XRCC1) and risk of pancreatic adenocarcinoma. 12183419

2002