<i>PRSS1</i>and<i>SPINK1</i>mutations in idiopathic chronic and recurrent acute pancreatitis

Peláez-Luna, Mario

doi:10.3748/wjg.v20.i33.11788

Cited by 31 publications

(24 citation statements)

References 32 publications

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“…In the present study, genotyping of Serbian acute pancreatitis patients of both mild and severe clinical course revealed no carriers of either 365G>A or 86A>T variations in the PRSS1 gene. This corresponds well to the previous data obtained from Caucasians diagnosed with non-hereditary forms of pancreatitis (8,17,22,24,25,32,37,39,40,43,46), arguing against genetic testing of PRSS1 in acute pancreatitis cases in our population (35). Most likely, environmental or other genetic risk and modifying factors are involved in pathogenesis and affect the severity of this disease in Serbs.…”

Section: Discussionsupporting

confidence: 92%

“…However, investigations yielded contradictory results (52). While some of the studies observed no association between this variation and the disease risk or severity (22,47,53,54), others reported SPINK1 101A>G as either a cause (14,24) or a cofactor (16,17,31,32,37,39,55) in pancreatitis development.…”

Section: Discussionmentioning

confidence: 99%

“…Previous research has established that both PRSS1 and SPINK1 polymorphisms have the potential to modulate the clinical presentation and prognosis of pancreatitis. Moreover, the distribution of these variations differs among populations (17)(18)(19)(20)(21)(22), and this interethnic variability could significantly affect the magnitude of their proposed role in pancreatitis worldwide. The aim of the present study was to investigate the distribution of the most important functional PRSS1 and SPINK1 variations and their influence on the clinical course of acute pancreatitis Serbian patients.…”

Section: Introductionmentioning

confidence: 99%

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Lack Of PRSS1 And SPINK1 Polymorphisms In Serbian Acute Pancreatitis Patients

Radosavljevic

Milojevic

Miljkovic

et al. 2015

Serbian Journal of Experimental and Clinical Research

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Acute pancreatitis represents an acute nonbacterial inflammation of the pancreas caused by a premature and ectopic activation of pancreatic digestive enzymes. Two of the most important genes in pancreatic autodigestion, PRSS1 and SPINK1, were implicated in the earliest discoveries of the genetic background of pancreatitis. However, the distribution of their variations displays interethnic variability, which could significantly affect the magnitude of their proposed effects on this disease worldwide. The aim of the present study was to investigate the distribution of the most important functional variations of PRSS1 (86A>T and 365G>A) and SPINK1 (101A>G), and their influence on the clinical course of acute pancreatitis in Serbian patients. The study enrolled 81 subjects, the severity of disease course was determined using the Atlanta Classification system, and the genotyping was conducted using a PCR-RFLP method. PRSS1 86A>T and 365G>A SNPs were not observed in the study population, while SPINK1 101A>G was present with the frequency of 0.62% (95% CI: 0.00, 3.83%). Due to extremely low frequencies or absences of examined variations, the proposed effect of these SNPs on the severity of acute pancreatitis could not be confirmed. The results do not support routine genotyping of either PRSS1 or SPINK1 in Serbs.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Lack Of PRSS1 And SPINK1 Polymorphisms In Serbian Acute Pancreatitis Patients

Radosavljevic

Milojevic

Miljkovic

et al. 2015

Serbian Journal of Experimental and Clinical Research

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“…Hereditary pancreatitis is autosomal dominant, has a high life time risk of 40% for developing PDAC, and is associated with mutations in PRSS1 and SPINK1 [58,59,60]. PRSS1 is a serine protease and SPINK1 encodes for a trypsin inhibitor in the healthy pancreas [59,61].…”

Section: Genes Syndromes and Risk Factorsmentioning

confidence: 99%

Familial Pancreatic Cancer

Benzel

Fendrich

2018

Oncol Res Treat

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Familial pancreatic cancer accounts for 10% of all patients with pancreatic cancer. Because the 5-year survival rate of pancreatic cancer is only 7%, screening programs for high-risk individuals are essential and might be advantageous. Pancreatic ductal adenocarcinoma mostly shows symptoms at an advanced state and treatment is not efficient enough to cure most patients. People with hereditary tumor syndromes or their affected relatives can also be included in such screening programs. Besides the collection of data to investigate the background of the disease, these screening programs aim to diagnose and treat precursor lesions so that more dangerous, invasive lesions are prevented. These precursor lesions can be pancreatic intraepithelial neoplasia, intraductal papillary mucinous neoplasm, and mucinous cystic neoplasm. This review summarizes the latest knowledge of pancreatic screening programs, shows the procedure of pancreatic cancer screening, and gives an overview of current guidelines.

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“…In Mexico, single pancreatitis patients with PRSS1 V39E or N42S variants were identified, but no PRSS1 R122H or N29I variants were observed (46).…”

Section: Epidemiologymentioning

confidence: 99%

Hereditary Pancreatitis

Neagu

Zarnescu²,

Dincă³

et al.

The Pancreapedia: Exocrine Pancreas Knowledge Base

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Hereditary pancreatitis (HP) is a rare autosomal dominant genetic disorder of the pancreas with incomplete penetrance. HP typically presents with acute pancreatitis in early adolescence with a high rate of progression to chronic pancreatitis (CP) by early adulthood. Genetically, HP is generally caused by gain-of-function mutations in the cationic trypsinogen gene (PRSS1), although rare kindreds have been identified with other known or unknown etiologies. While HP is similar to RAP and CP of other etiologies, the onset of HP is dramatically earlier. A lifetime of pancreatic injury and inflammation increases the risk for the most adverse late complication of HP -pancreatic cancer. Furthermore, the natural history of HP cases varies substantially between individuals and families due to gene-gene and geneenvironment interactions. Patients with HP should be closely evaluated for pancreatic endocrine and exocrine insufficiency, counseled on lifestyle changes that may reduce severity and progression, and may be evaluated for total pancreatectomy with islet autotransplantation (TP-IAT) when chronic pain does not respond to therapeutic interventions.

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PRSS1andSPINK1mutations in idiopathic chronic and recurrent acute pancreatitis

Abstract: Two novel PRSS1 mutations and one novel SPINK1 mutation were identified in Mexican patients with early onset idiopathic recurrent acute pancreatitis.

Cited by 31 publications

References 32 publications

Lack Of PRSS1 And SPINK1 Polymorphisms In Serbian Acute Pancreatitis Patients

Lack Of PRSS1 And SPINK1 Polymorphisms In Serbian Acute Pancreatitis Patients

Familial Pancreatic Cancer

Hereditary Pancreatitis

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