BACKGROUND: A high mortality rate of pancreatic cancer becomes a bottleneck for further treatment with long-term efficacy. It is urgent to find a new mean to predict the early onset of pancreatic cancer accurately. The authors hypothesized that genetic variants of cationic trypsinogen (PRSS1) gene could affect trypsin expression/function and result in abnormal activation of protease activated receptor-2 (PAR-2), then lead to pancreatic cancer. The aim of this study was to elaborate some novel mutations of PRSS1 gene in the patients with pancreatic cancer. METHODS: Totally 156 patients with pancreatic cancer and 220 unrelated individuals as controls were enrolled in this study. The mutations of PRSS1 gene were analyzed by direct sequencing. K-ras Mutation Detection Kit was used to find the general k-ras gene disorder in the pancreatic cancer tissue. Then the clinical data were collected and analyzed simultaneously. RESULTS: There were two patients who carried novel mutations which was IVS 3 + 157 G > C of PRSS1 gene in peripheral blood specimens and pancreatic cancer tissue. What's more, it was surprising to find a novel complicated mutation of exon 3 in PRSS1 gene (c.409 A > G and c.416 C > T) in another young patient. The complicated mutation made No. 135 and No. 137 amino acid transfer from Thr to Ala and Thr to Met respectively. No any mutation was found in the normal controls while no mutations of k-ras gene were detected in the three patients. CONCLUSION: Mutations of PRSS1 gene may be an important factor of pancreatic cancer.
BACKGROUND: A high mortality rate of pancreatic cancer becomes a bottleneck for further treatment with long-term efficacy. It is urgent to find a new mean to predict the early onset of pancreatic cancer accurately. The authors hypothesized that genetic variants of cationic trypsinogen (PRSS1) gene could affect trypsin expression/function and result in abnormal activation of protease activated receptor-2 (PAR-2), then lead to pancreatic cancer. The aim of this study was to elaborate some novel mutations of PRSS1 gene in the patients with pancreatic cancer. METHODS: Totally 156 patients with pancreatic cancer and 220 unrelated individuals as controls were enrolled in this study. The mutations of PRSS1 gene were analyzed by direct sequencing. K-ras Mutation Detection Kit was used to find the general k-ras gene disorder in the pancreatic cancer tissue. Then the clinical data were collected and analyzed simultaneously. RESULTS: There were two patients who carried novel mutations which was IVS 3 + 157 G > C of PRSS1 gene in peripheral blood specimens and pancreatic cancer tissue. What's more, it was surprising to find a novel complicated mutation of exon 3 in PRSS1 gene (c.409 A > G and c.416 C > T) in another young patient. The complicated mutation made No. 135 and No. 137 amino acid transfer from Thr to Ala and Thr to Met respectively. No any mutation was found in the normal controls while no mutations of k-ras gene were detected in the three patients. CONCLUSION: Mutations of PRSS1 gene may be an important factor of pancreatic cancer.
Authors: Irina Mihaela Cazacu; Nelli Farkas; András Garami; Márta Balaskó; Bernadett Mosdósi; Hussain Alizadeh; Zoltán Gyöngyi; Zoltán Rakonczay; Éva Vigh; Tamás Habon; László Czopf; Marilena Alina Lazarescu; Bálint Erőss; Miklós Sahin-Tóth; Péter Hegyi Journal: Pancreas Date: 2018-10 Impact factor: 3.327
Authors: Jan Peveling-Oberhag; Franziska Wolters; Claudia Döring; Dirk Walter; Ludger Sellmann; René Scholtysik; Marco Lucioni; Max Schubach; Marco Paulli; Saskia Biskup; Stefan Zeuzem; Ralf Küppers; Martin-Leo Hansmann Journal: BMC Cancer Date: 2015-10-24 Impact factor: 4.430