Clinical interpretation of prss1 gene variants in patients with pancreatitis

Girodon, Emmanuelle; Rebours, Vinciane; Chen, Jian Min; Pagin, Adrien; Levy, Philippe; Ferec, Claude; Bienvenu, Thierry

Document type :

Article dans une revue scientifique: Article original

DOI :

10.1016/j.clinre.2020.07.004

PMID :

33257277

Permalink :

http://hdl.handle.net/20.500.12210/59656

Title :

Clinical interpretation of prss1 gene variants in patients with pancreatitis

Author(s) :

Girodon, Emmanuelle [Auteur]
Hôpital Cochin [AP-HP]
Rebours, Vinciane [Auteur]
Hôpital Beaujon [AP-HP]
Chen, Jian Min [Auteur]
Centre Hospitalier Régional Universitaire de Brest [CHRU Brest]
Pagin, Adrien [Auteur]

IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
Levy, Philippe [Auteur]
Hôpital Beaujon [AP-HP]
Ferec, Claude [Auteur]
Centre Hospitalier Régional Universitaire de Brest [CHRU Brest]
Bienvenu, Thierry [Auteur]
Hôpital Cochin [AP-HP]

Journal title :

Clinics and research in hepatology and gastroenterology

Abbreviated title :

Clin Res Hepatol Gastroenterol

Volume number :

Pages :

101497

Publication date :

2021-01

ISSN :

2210-741X

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Since the description of the PRSS1 gene encoding the cationic trypsinogen as being involved in dominant hereditary pancreatitis, more than 50 PRSS1 variants have been reported. Among the PRSS1 variants that have been ...
Show more >Since the description of the PRSS1 gene encoding the cationic trypsinogen as being involved in dominant hereditary pancreatitis, more than 50 PRSS1 variants have been reported. Among the PRSS1 variants that have been classified as pathogenic, some have a high penetrance and others have a low penetrance. Assessing the clinical relevance of PRSS1 variants is often complicated in the absence of functional evidence and interpretation of rare variants is not very easy in clinical practice. The aim of this study was to review the different variants identified in the PRSS1 gene and to classify them according to their degree of deleterious effect. This classification was based on the results of several in vitro experiments and on population data, in comparing the allelic frequency of each variant in patients with pancreatitis and in unaffected individuals. This review should help geneticists and clinicians in charge of patient's care and genetic counseling to interpret molecular results.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Institut Pasteur de Lille
Université de Lille

Collections :

IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

Submission date :

2022-02-02T10:23:28Z
2022-08-24T10:20:10Z

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Version	Link	Modification date
2	20.500.12210/59656*	2022-08-24T09:55:26Z
1	20.500.12210/59656.1	2022-02-02T10:23:28Z

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Clinical interpretation of prss1 gene ...

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