Novel mutations of PRSS1 gene in patients with pancreatic cancer among han population

Chinese Medical Journal

Volumn 124, Issue 13, 2011, Pages 2065-2067

  Zeng, Kai ^a   Liu, Qi Cai ^a   Lin, Jian Hua ^a   Lin, Xin Hua ^a   Zhuang, Ze Hao ^a   Gao, Feng ^a   Ou, Qi Shui ^a  

^a FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Mutation; Pancreatic cancer; Prss1 gene

Indexed keywords

ANTINEOPLASTIC AGENT; ANTINUCLEAR ANTIBODY; APROTININ; ARGININE; COLLAGEN TYPE 4; CYTOSINE; GENOMIC DNA; GUANINE; HYALURONIC ACID; METHIONINE; THREONINE; TRYPSINOGEN; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ASPIRATION BIOPSY; BLOOD SAMPLING; CARCINOGENESIS; CHINA; CONTROLLED STUDY; DIABETES MELLITUS; DNA DETERMINATION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; JAUNDICE; LABORATORY TEST; MAJOR CLINICAL STUDY; ONCOGENE; ONCOGENE K RAS; ONCOGENE PRSS1; PANCREAS; PANCREAS CANCER; PANCREAS PSEUDOCYST; PROTEIN BLOOD LEVEL; STEATORRHEA;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MALE; MUTATION; PANCREATIC NEOPLASMS; TRYPSIN;

EID: 79960090311     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2011.13.025     Document Type: Article

References (16)

1. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297: 606-609.
2. Murphy KM, Brune KA, Griffin C, Sollenberger JE, Petersen JE, Bansal GM, et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res 2002; 62: 3789-3793.
3. Zogopoulos G, Rothenmund H, Eppel A, Ash C, Akbari MR, Hedley D, et al. The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer. Hum Genet 2007; 121: 635-637.
4. Pogue-Geile KL, Bronner MP, Crispin D, Kimmey MB, Duerr RH, Kruglyak L, et al. A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34. Am J Hum Genet 2002; 70: 1044-1048.
5. Applebaum-Shapiro SE, Peters JA, Connell O, Aston CE, Whitcomb DC. Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis. Am J Gastroenterol 2001; 96: 1610-1617.
6. Whitcomb DC. Genetic aspects of pancreatitis. Annu Rev Med 2010; 61: 413-424.
7. Grocock CJ, Rebours V, Delhaye M, Andren-Sandberg A, Weiss FU, Mountford R, et al. European Registry of Hereditary Pancreatitis and Pancreatic Cancer. The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families. Gut 2010; 59: 357-363.
8. Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas 2006; 33: 221-227.
9. Liu QC, Zhuang ZH, Zeng K, Cheng ZJ, Gao F, Wang ZQ. Prevalence of pancreatic diabetes in patients carrying mutations or polymorphisms of the PRSS1 gene in the Han population. Diabetes Technol Ther 2009; 11: 799-804.
10. Kereszturi E, Sahin-Tóth M. Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death. J Biol Chem 2009; 284: 33392-33399.
11. Rebours V, Boutron-Ruault MC, Jooste V, Bouvier AM, Hammel P, Ruszniewski P, et al. Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. Am J Gastroenterol 2009; 104: 2312-2317.
12. Liu QC, Gao F, Ou QS, Zhuang ZH, Yang B, Lin SR. Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. Chin Med J 2008; 121: 108-111.
13. Berndt C, Haubold K, Wenger F, Brux B, Müller J, Bendzko P, et al. K-ras mutations in stools and tissue samples from patients with malignant and nonmalignant pancreatic diseases. Clin Chem 1998; 44: 2103-2107.
14. Chen JM, Férec C. Chronic pancreatitis: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2009; 10: 63-87.
15. Rebours V, Lévy P, Mosnier JF, Scoazec JY, Soubeyrand MS, Fléjou JF, et al. Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. Clin Gastroenterol Hepatol 2010; 8: 206-212.
16. Rebours V, Boutron-Ruault MC, Schnee M, Ferec C, Maire F, Hammel P, et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol 2008; 103: 111-119.