With Pancreatic Cancer in China”), the study included more than 2,000 patients with pancreatic cancer and other pancreatic diseases, including 1,009 patients with pancreatic cancer, and systematically analyzed the occurrence of germline mutations in pancreatic diseases and pan-cancer susceptibility genes in the Chinese population. .
The genomics-related studies of pancreatic cancer mainly focus on Western populations, and the related studies on East Asian populations mainly stay in small sample reports. However, there are no studies on ethnic differences in the genetic background of pancreatic cancer. With the technical support of Professor Yu Jun from Johns Hopkins University in the United States, this study independently designed a panel for the detection of pancreatic disease susceptibility genes, providing a large number of data samples of pancreatic cancer germline mutations in the Chinese population for the first time. In addition to pancreatic cancer, this study also reports on the occurrence of germline mutations in patients with non-cancer pancreatic diseases such as pancreatic neuroendocrine tumors, pancreatitis, and pancreatic cystic tumors.
The study showed that in the homologous recombination repair pathway (HRR)-related genes including BRCA1/2, ATM, and PALB2, the occurrence of mutations in the Chinese population was not significantly different from that in the Western population. The incidence of pancreatitis-related gene SPINK1 in the Chinese population was significantly higher than that in the Western population. The German-Jewish characteristic mutation (BRCA2 p.Ser1982fs) and CPA1 and CPB1 gene mutations previously reported in the Western population were not detected in the Chinese population. It is suggested that the genetic background of pancreatic cancer patients in the Chinese population is different from that in the Western population. In addition, among the 59 genes tested, pathogenic mutations in some genes (such as CPA1, CPB1) were not detected in all patients, suggesting that the genetic mutation detection of sporadic pancreatic cancer should be more streamlined and more in line with Chinese nationals. Onset characteristics of the Panel. This study is currently the first large-sample single-center study (>1000 cases) of pancreatic cancer genetic mutation detection in China. The results show that the genetic background of pancreatic cancer in the Chinese population is somewhat different from that in the West, and it is also a clinical study of pancreatic cancer based on genetic mutation in China. Drug research provides a critical population-based data base.
The Pancreatic Center of the First Affiliated Hospital of Nanjing Medical University is an internationally renowned comprehensive diagnosis and treatment center for pancreatic diseases. It provides one-stop services including surgery, endoscopy, drugs and other methods of diagnosis and treatment. It strives to provide patients with world-class diagnosis and treatment services for pancreatic diseases. A number of international multi-center clinical studies. The center maintains more than 1,000 pancreatic surgeries per year, and has established the largest high-quality pancreatic biological sample bank in East Asia.
