Titre :

Clinical interpretation of spink1 and ctrc variants in pancreatitis

Auteur(s) :

Girodon, Emmanuelle [Auteur]
Hôpital Cochin [AP-HP]
Rebours, Vinciane [Auteur]
ParaDis
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]
ParaDis
Bienvenu, Thierry [Auteur]
Hôpital Cochin [AP-HP]

Titre de la revue :

Pancreatology . official journal of the International Association of Pancreatology (IAP) ... [et al.]

Nom court de la revue :

Pancreatology

Numéro :

20

Pagination :

1354-1367

Date de publication :

2020-10-07

ISSN :

1424-3911

Mot(s)-clé(s) :

Pancreatitis
SPINK1
CTRC
Penetrance
Variant classification

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Since the description of the SPINK1 gene encoding the serine protease inhibitor Kazal type 1 and the CTRC gene encoding the Chymotrypsin C as being involved in chronic pancreatitis, more than 56 SPINK1 and 87 CTRC variants ...
Lire la suite >Since the description of the SPINK1 gene encoding the serine protease inhibitor Kazal type 1 and the CTRC gene encoding the Chymotrypsin C as being involved in chronic pancreatitis, more than 56 SPINK1 and 87 CTRC variants have been reported. Assessing the clinical relevance of SPINK1 and CTRC 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 these two genes and to classify them according to their degree of damaging effect. This classification was based on the results of in vitro experiments, in silico analysis using different prediction tools, and on population data, in comparing the allelic frequency of each variant in patients with pancreatitis and in unaffected control individuals. This review should help geneticists and clinicians in charge of patient's care and genetic counseling to interpret the results of genetic studies.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

CHU Lille
Institut Pasteur de Lille
Université de Lille

Collections :

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

Date de dépôt :

2022-02-02T10:24:38Z
2022-08-24T09:15:51Z