|
Hereditary pancreatitis
|
|
0.870 |
CausalMutation
|
CLINVAR |
|
|
|
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both.
|
12227654 |
2002 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
TCP is highly associated with the SPINK1 N34S mutation.
|
12360463 |
2002 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.
|
19404200 |
2009 |
|
Pancreatic adenocarcinoma metastatic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Metastatic pancreatic adenocarcinoma associated with chronic calcific pancreatitis and a heterozygous SPINK1 N34S mutation.
|
27358244 |
2017 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
N34S was found in 4/108 affected HP patients (p=0.724 v controls), in 3/27 (11%) with wild-type and in 1/81 (1%) with mutant PRSS1, and 4/67 ACP patients (all p>0.05 v controls).
|
11950815 |
2002 |
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
N34S, a pancreatitis associated SPINK1 mutation, is not associated with sporadic pancreatic cancer.
|
12649567 |
2003 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
N34S SPINK1 represents the major genetic risk factor in TCP.
|
19077465 |
2009 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
A cohort of 19 families (n=170) with a history of idiopathic CP (ICP) was screened for mutations within the CASR gene; 104 members of that cohort had a mutation (N34S) within the SPINK1 gene and 66 of those were suffering from CP.
|
16497624 |
2006 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
A genetic variant of PSTI, N34S, is associated with the development of pancreatitis.
|
16254194 |
2006 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP.
|
17613931 |
2007 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient.
|
16187186 |
2005 |
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Again, only the patient with the combination of both CASR and N34S SPINK1 gene mutation developed pancreatitis, whereas in the healthy parents and children only an isolated CASR or N34S SPINK1 gene mutation could be detected.
|
16497624 |
2006 |
|
Malignant Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis.
|
15084977 |
2004 |
|
Primary malignant neoplasm
|
|
0.020 |
GeneticVariation
|
BEFREE |
Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis.
|
15084977 |
2004 |
|
Hereditary pancreatitis
|
|
0.870 |
GeneticVariation
|
BEFREE |
Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis.
|
15084977 |
2004 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Approximately 15-40% of patients with so-called idiopathic CP carry p.N34S on one allele or on both alleles.
|
21525753 |
2010 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation.
|
16492714 |
2006 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because the SPINK1 N34S mutation is very common in the general population, it is unlikely that this mutation alone can initiate the development of chronic pancreatitis.
|
15528018 |
2004 |
|
Idiopathic chronic pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis.
|
14641934 |
2003 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
|
Hereditary pancreatitis
|
|
0.870 |
SusceptibilityMutation
|
CLINVAR |
Chronic pancreatitis: challenges and advances in pathogenesis, genetics, diagnosis, and therapy.
|
17466744 |
2007 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |