Article
Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.
The Journal of clinical endocrinology and metabolism - 17 Jun 2024
Chevalier Benjamin, Coppin Lucie, Romanet Pauline, Cuny Thomas, Maïza Jean-Christophe, Abeillon Juliette, Forestier Julien, Walter Thomas, Gilly Olivier, Le Bras Maëlle, Smati Sarra, Nunes Marie Laure, Geslot Aurore, Grunenwald Solange, Mouly Céline, Arnault Gwenaelle, Wagner Kathy, Koumakis Eugénie, Cortet-Rudelli Christine, Merlen Émilie, Jannin Arnaud, Espiard Stéphanie, Morange Isabelle, Baudin Éric, Cavaille Mathias, Tauveron Igor, Teissier Marie-Pierre, Borson-Chazot Françoise, Mirebeau-Prunier Delphine, Savagner Frédérique, Pasmant Éric, Giraud Sophie, Vantyghem Marie-Christine, Goudet Pierre, Barlier Anne, Cardot-Bauters Catherine, Odou Marie Françoise
Abstract excerpt
CONTEXT: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear. OBJECTIVE: To evaluate the prevalence...
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