Clinical interpretation of prss1 gene ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Clinical interpretation of prss1 gene variants in patients with pancreatitis
Auteur(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]
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]
Titre de la revue :
Clinics and research in hepatology and gastroenterology
Nom court de la revue :
Clin Res Hepatol Gastroenterol
Numéro :
45
Pagination :
101497
Date de publication :
2021-01
ISSN :
2210-741X
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [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 ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Institut Pasteur de Lille
Université de Lille
Institut Pasteur de Lille
Université de Lille
Date de dépôt :
2022-02-02T10:23:28Z
2022-08-24T10:20:10Z
2022-08-24T10:20:10Z
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- Girodon et al..pdf
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