Article
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Aug 2023
Masson Emmanuelle, Zou Wen-Bin, Pu Na, Rebours Vinciane, Génin Emmanuelle, Wu Hao, Lin Jin-Huan, Wang Yuan-Chen, Li Zhao-Shen, Cooper David N, Férec Claude, Liao Zhuan, Chen Jian-Min
Abstract excerpt
BACKGROUND: PRSS1 was the first reported chronic pancreatitis (CP) gene. The existence of both gain-of-function (GoF) and gain-of-proteotoxicity (GoP) pathological PRSS1 variants, together with the fact that PRSS1 variants have been identified in CP subtypes spanning the range from monogenic to multifactorial, has made the classification of PRSS1 variants very challenging. METHODS: All currently reported PRSS1...
Topics
- Pancreatitis, Chronic
- Trypsin
- China
- Gene Frequency
- Mutation
- France
- East Asian People
- Humans
- European People
- Genetic Predisposition to Disease
