It is increasingly appreciated that missense variants may not only alter protein structure and function but may also influence pre-mRNA splicing and/or mRNA stability. Here we explore this issue in the context of currently known SPINK1 missense variants using a full-length gene assay. We demonstrated that 4 (17%) out of 24 variants tested significantly reduced pre-mRNA splicing and/or stability...

PURPOSE The aim of this study was to compare the frequency of ERG rearrangement, PTEN deletion, SPINK1 overexpression, and SPOP mutation in prostate cancer in African American and Caucasian men. EXPERIMENTAL DESIGN Dominant tumor nodules from radical prostatectomy specimens of 105 African American men (AAM) were compared with 113 dominant nodules from Caucasian men (CaM). Clinical and patholo...

Aim Chronic pancreatitis is labelled as idiopathic when no identifiable factors are found. The identifications of genetic mutations associated with pancreatitis have provided opportunities for identifying patients at risk for idiopathic pancreatitis. The aim of this study was to study the demographic, clinical profile and assess the prevalence of genetic mutation (SPINK 1) in idiopathic chronic...

CONTEXT The exact mechanism of alcoholic pancreatitis has not yet been clarified. Recent studies suggest that alcohol represents only a risk factor for developing pancreatic inflammation in genetic or environmental susceptible subjects. In this regard, various genes involving an alcohol-metabolizing pathway or pancreatitis protecting factors have been extensively studied in order to identify ge...

INTRODUCTION  Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis. OBJECTIVES  The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without ...

Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conduct...

Chronic pancreatitis (CP) is characterized by progressive damage to the exocrine and endocrine cell structures and pancreatic ducts with subsequent fibrosis of the organ. Patients with no apparent etiological factor are classified as having idiopathic CP (ICP). Genetic studies indicate the importance of mutations in the serine protease inhibitor, Kazal type 1 gene (SPINK1) in the pathogenesis o...

The most common cause of chronic pancreatitis (CP) is alcohol abuse. The aim of the present study was to identify patients with genetic predisposition to CP abusing alcohol. The question posed was whether CP manifests at a younger age and diabetes mellitus develops earlier in individuals with genetic predisposition. The study encompassed 79 patients with alcoholic chronic pancreatitis (ACP) and...

6. Sultan M, Werlin S, Venkatasubramani N. Genetic prevalence and characteristics in children with recurrent pancreatitis. JPGN. 2012;54:645--50. 7. Derikx MHM, Drenth JPH. Genetic factors in chronic pandreatitis; implications for diagnosis, management and prognosis. Best Pract Res Clin Gastroenterol. 2010;24: 251--70. 8. Whitcomb DC. Genetic risk factors for pancreatic disorder. Gastroenterolo...

Although various mechanisms of castration-resistant prostate cancer (CRPC) have been discovered, reliable biomarkers for monitoring CRPC progression are lacking. We sought to identify molecules that predict the progression of advanced prostate cancer (AdvPC) into CRPC. The study used primary-site samples (N=45 for next-generation sequencing (NGS); N=243 for real-time polymerase chain reaction) ...