UMD-MEN1 database: an overview of the 370 ...
Type de document :
Article dans une revue scientifique
DOI :
PMID :
URL permanente :
Titre :
UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population.
Auteur(s) :
Romanet, Pauline [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Mohamed, Amira [Auteur]
Giraud, Sophie [Auteur]
Odou, Marie-Francoise [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
North, Marie-Odile [Auteur]
Pertuit, Morgane [Auteur]
Pasmant, Eric [Auteur]
Coppin, Lucie [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Guien, Celine [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Calender, Alain [Auteur]
Borson-Chazot, Francoise [Auteur]
Université Claude Bernard Lyon 1 [UCBL]
Beroud, Christophe [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Goudet, Pierre [Auteur]
Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques [CIC-EC]
Barlier, Anne [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Mohamed, Amira [Auteur]
Giraud, Sophie [Auteur]
Odou, Marie-Francoise [Auteur]
Lille Inflammation Research International Center - U 995 [LIRIC]
North, Marie-Odile [Auteur]
Pertuit, Morgane [Auteur]
Pasmant, Eric [Auteur]
Coppin, Lucie [Auteur]
Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer (JPArc) - U1172
Guien, Celine [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Calender, Alain [Auteur]
Borson-Chazot, Francoise [Auteur]
Université Claude Bernard Lyon 1 [UCBL]
Beroud, Christophe [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Goudet, Pierre [Auteur]
Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques [CIC-EC]
Barlier, Anne [Auteur]
Marseille medical genetics - Centre de génétique médicale de Marseille [MMG]
Titre de la revue :
The Journal of clinical endocrinology and metabolism
Nom court de la revue :
J. Clin. Endocrinol. Metab.
Numéro :
104
Pagination :
753–764
Date de publication :
2019-03
ISSN :
1945-7197
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are ...
Lire la suite >Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. Objective: The aim of this work is to facilitate interpretation of variants and improve the genetic counseling and medical care of MEN1-patients ' families. Design, Setting, and Patients: The TENGEN network (French oncogenetics network of neuroendocrine tumors) has interpreted and collected all allelic variants and clinical characteristics of the MEN1-positive patients identified through genetic testing performed in the French population from 1997 to 2015. They were registered in a locus-specific database called the UMD-MEN1 database (www.umd.be/MEN1/). Main Outcomes: variant classification, age-related penetrance, odds ratio. Results: Three hundred seventy distinct variants reported in 1,676 patients, including 181 unpublished variants, have currently been registered. This database analysis pointed out the low frequency of benign or likely benign missense variants in MEN1 (only 6.6%). Eight families (1.9%) presented a familial isolated hyperparathyroidism and harbored the same mutation found in authentic MEN1-families. An association exists between large rearrangements and an earlier onset of the disease, whereas no difference was observed between truncating and non-truncating variants. Conclusion: UMD-MEN1 database provides an exhaustive overview of the MEN1 variants present in the French population. For each variant, a classification is publicly available. Clinical data collections allow the determination of genotype-phenotype correlation and age-related penetrance of lesions in the cohort.Lire moins >
Lire la suite >Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. Objective: The aim of this work is to facilitate interpretation of variants and improve the genetic counseling and medical care of MEN1-patients ' families. Design, Setting, and Patients: The TENGEN network (French oncogenetics network of neuroendocrine tumors) has interpreted and collected all allelic variants and clinical characteristics of the MEN1-positive patients identified through genetic testing performed in the French population from 1997 to 2015. They were registered in a locus-specific database called the UMD-MEN1 database (www.umd.be/MEN1/). Main Outcomes: variant classification, age-related penetrance, odds ratio. Results: Three hundred seventy distinct variants reported in 1,676 patients, including 181 unpublished variants, have currently been registered. This database analysis pointed out the low frequency of benign or likely benign missense variants in MEN1 (only 6.6%). Eight families (1.9%) presented a familial isolated hyperparathyroidism and harbored the same mutation found in authentic MEN1-families. An association exists between large rearrangements and an earlier onset of the disease, whereas no difference was observed between truncating and non-truncating variants. Conclusion: UMD-MEN1 database provides an exhaustive overview of the MEN1 variants present in the French population. For each variant, a classification is publicly available. Clinical data collections allow the determination of genotype-phenotype correlation and age-related penetrance of lesions in the cohort.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Inserm
Université de Lille
CHU Lille
Université de Lille
CHU Lille
Équipe(s) de recherche :
Inflammatory digestive disease : pathophysiology and therapeutic targets developement
Date de dépôt :
2019-03-01T14:07:55Z
2021-05-14T08:18:10Z
2023-12-21T11:06:33Z
2021-05-14T08:18:10Z
2023-12-21T11:06:33Z
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