This information is based on 2001 data for the cationic trypsinogen gene (PRSS1) Disclaimer: This information is intended for general education of individuals who are interested in hereditary pancreatitis and related disorders. It in no way can substitute for the evaluation and care provided to individuals through their trained health care providers. For further information the following publications will be helpful.
Recommended reading (technical)
Chronic Pancreatitis
1. Etemad B, Whitcomb DC. Chronic Pancreatitis: Diagnosis, Classification, and New Genetic Developments. Gastroenterology 2001; 120:682-707.
Trypsinogen Gene Mutations
The trypsinogen R122H and N29I mutations
2. Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nature Genetics 1996;14(2):141-5.
3. Gorry MC, Gabbaizedeh D, Furey W, Gates LK, Jr., Preston RA, Aston CE, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997;113(4):1063-8.
4. Whitcomb DC. Hereditary Panceatitis: New insights into acute and chronic pancreatitis. Gut 1999;45:317?22.
5. Whitcomb DC. Genetic Predispositions to Acute and Chronic Pancreatitis. Medical Clinics of North America 2000;84(2):531-47.
Genetic Testing
6. Ellis I, Lerch MM, Whitcomb DC, Committee C. Genetic Testing for Hereditary Pancreatitis: Guidelines for indications, counselling, consent and privacy issues. Pancreatology 2001;1(5):401-11.
7. Applebaum SE, Kant JA, Whitcomb DC, Ellis IH. Genetic testing: counseling, laboratory and regulatory issues and the EUROPAC protocol for ethical research in multi-center studies of inherited pancreatic diseases. Medical Clinics of North America 2000;82(2):575-88.
8. Applebaum SE, OíConnell JA, Aston CE, Whitcomb DC. Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis. American Journal of Gastroenterology 2001;96(5):1610-7.
9. Applebaum-Shapiro SE, Finch R, Pfützer RH, Hepp LA, Gates L, Amann S, et al. Hereditary Pancreatitis in North America: The Pittsburgh - Midwest Multi-Center Pancreatic Study Group Study. Pancreatology 2001;1(5):439-43.
Cancer Risk
10. Lowenfels AB, Maisonneuve P, Whitcomb DC, Lerch MM, DiMagno EP. Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. Journal of the American Medical Association 2001;286(2):169-70.
11. Lowenfels AB, Maisonneuve P, Whitcomb DC. Risk factors for cancer in hereditary pancreatitis. International Hereditary Pancreatitis Study Group. Medical Clinics of North America. 2000;84(3):565-73.
12. Lowenfels A, Maisonneuve P, DiMagno E, Elitsur Y, Gates L, Perrault J, et al. Hereditary pancreatitis and the risk of pancreatic cancer. Journal of the National Cancer Institute 1997;89(6):442-6.
SPINK1 Mutations (not discussed in this document)
13. Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, et al. Mutations in the gene encoding the serine protease inhibitor, kazal type 1 are associated with chronic pancreatitis. Nature Genetics 2000;25(2):213-6.
14. Pfützer RH, Barmada MM, Brunskil APJ, Finch R, Hart PS, Neoptolemos J, et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000; 119:615-23.
15. Whitcomb DC. What to think about SPINK and pancreatitis? Am J Gastrol 2002;(in press).
CFTR Mutations (not discussed in this document)
16. Cohn J, Friedman K, Silverman L, Noone P, Knowles M, Jowell P. CFTR mutations predispose to chronic pancreatitis without cystic fibrosis lung disease (abstract). Gastroenterology 1997;112(4): A434.
17. Cohn JA, Bornstein JD, Jowell PS. Cystic fibrosis mutations and genetic predisposition to idiopathic chronic pancreatitis. Medical Clinics of North America 2000;84(3):621-31.
18. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, et al. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. New England Journal of Medicine 1998;339(10):645-52.
19. Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA. Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 2001;121(6):1310-9.
* Note: The trypsinogen R122H and N29I mutations were previously numbered R117H and N21I.
Prepared with the assistance of: Suzanne Applebaum-Shapiro and Laura Hepp and David C Whitcomb MD PhD
Updated: December 18, 2001