Article ; Online: Hereditary Pancreatitis Related to SPINK-1 Mutation. Is There an Increased Risk of Developing Pancreatic Cancer?
Journal of gastrointestinal cancer
2021 Volume 54, Issue 1, Page(s) 268–269
Abstract: It is thought that many of the idiopathic pancreatitis could have a genetic base. Approximately 50% of them correspond to CFTR (cystic fibrosis transmembrane conductance regulator gene) and SPINK-1 (serine protease inhibitor Kazal type 1) mutations. A ... ...
Abstract | It is thought that many of the idiopathic pancreatitis could have a genetic base. Approximately 50% of them correspond to CFTR (cystic fibrosis transmembrane conductance regulator gene) and SPINK-1 (serine protease inhibitor Kazal type 1) mutations. A recent study compares patients with acute pancreatitis and SPINK-1 mutation with patients with idiopathic acute pancreatitis. The study highlights a 12-fold increased risk of developing pancreatic cancer with SPINK-1 mutation versus the control group. Nonetheless, authors conclude that only specific pN34s mutation is related to pancreatic cancer. This relation is controversial, and international consensus guidelines for the follow-up in chronic pancreatitis with pancreatic cancer still do not recommend follow-up in SPINK-1 p. N34S mutation. We believe that developing prospective studies in which subgroups of patients with SPINK-1 mutation benefit from closer follow-ups would be necessary. |
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MeSH term(s) | Humans ; Acute Disease ; Carrier Proteins/genetics ; Genetic Predisposition to Disease ; Mutation ; Pancreatic Neoplasms/genetics ; Pancreatitis/genetics ; Prospective Studies ; Trypsin Inhibitor, Kazal Pancreatic/genetics |
Chemical Substances | Carrier Proteins ; Trypsin Inhibitor, Kazal Pancreatic (50936-63-5) ; SPINK1 protein, human |
Language | English |
Publishing date | 2021-11-22 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 2452514-5 |
ISSN | 1941-6636 ; 1559-0739 ; 1941-6628 ; 1537-3649 |
ISSN (online) | 1941-6636 ; 1559-0739 |
ISSN | 1941-6628 ; 1537-3649 |
DOI | 10.1007/s12029-021-00729-4 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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