Fiche publication
Date publication
août 2023
Journal
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CADIOT Guillaume
,
Pr CLAVEL Christine
,
Dr VUITTON Lucine
,
Dr NAMBOT Sophie
Tous les auteurs :
Masson E, Zou WB, Pu N, Rebours V, Génin E, Wu H, Lin JH, Wang YC, ,Abrantes A, Aguilera Munoz L, Albouys J, Alric L, Amiot X, Archambeaud I, Audiau S, Bastide L, Baudon J, Bellaiche G, Bellon S, Bertrand V, Bideau K, Billiemaz K, Billioud C, Bonnefoy S, Borderon C, Bournet B, Breton E, Brugel M, Buscail L, Cadiot G, Camus M, Causse X, Chamouard P, Chaput U, Cholet F, Ciocan DM, Clavel C, Coffin B, Coimet-Berger L, Creveaux I, Culetto A, Daboussi O, Mestier L, Degand T, D'Engremont C, Denis B, Dermine S, Desgrippes R, D'Aubigny AD, Enaud R, Fabre A, Gargot D, Gelsi E, Gentilcore E, Gincul R, Ginglinger-Favre E, Giovannini M, Gomercic C, Gondran H, Grainville T, Grandval P, Grasset D, Grimaldi S, Grimbert S, Hagege H, Heissat S, Hentic O, Herber-Mayne A, Hervouet M, Hoibian S, Jacques J, Jais B, Kaassis M, Koch S, Lacaze E, Lacroute J, Lamireau T, Laurent L, Guillou XL, Rhun ML, Leblanc S, Levy P, Lievre A, Lorenzo D, Maire F, Marcel K, Matias C, Mauillon J, Morgant S, Moussata D, Muller N, Nambot S, Napoleon B, Olivier A, Pagenault M, Pelletier AL, Pennec O, Pinard F, Pioche M, Prost B, Queneherve L, Rebours V, Reboux N, Rekik S, Riachi G, Rohmer B, Roquelaure B, Hezode IR, Rostain F, Saurin JC, Servais L, Stan-Iuga R, Subtil C, Texier C, Thomassin L, Tougeron D, Tsakiris L, Valats JC, Vuitton L, Wallenhorst T, Wangerme M, Zanaldi H, Zerbib F,
Lien Pubmed
Résumé
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.
Mots clés
Chronic pancreatitis, Genetic predisposition to disease, PRSS1 gene, Trypsinogen/trypsin, Variant classification
Référence
Pancreatology. 2023 08;23(5):491-506
