ECE2019 Guided Posters Interdisciplinary Endocrinology 1 (11 abstracts)
UMD-MEN1 database: analysis of clinical and genetic data from 1,676 patients by the TENGEN network
Pauline Romanet 1 , Sophie Giraud 2 , Marie-françoise Odou 3 , Marie-Odile North 4 , Amira Mohamed 5 , Lucie Coppin 3 , Alain Calender 6 , Françoise Borson-Chazot 6 , Christophe Béroud 1 , Pierre Goudet 7 & Anne Barlier 1
1Aix Marseille Univ, Marseille, France; 2HCL, Lyon, France; 3CHU de Lille, Lille, France; 4APHP, Paris, France; 5APHM, Marseille, France; 6HCL-UCBL, Lyon, France; 7CHU de Dijon, Dijon, France.
Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene. MEN1 is characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. MEN1 presents a broad spectrum of variants, including large deletions, and truncating, missense, or splicing point mutations. The genotype-phenotype relationship remains under debate. The age-dependent penetrance and the variability of intra- and inter-familial expression of the disease increase the difficulty of interpretation of non-truncating variants in the MEN1 gene, particularly regarding sporadic patients with incomplete diagnosis criteria.
Patients and Methods: 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 France from 1997 to 2015. We analyzed the clinical and genetic characteristics of patients from the UMD-MEN1 database cohort.
Results: 370 distinct variants reported in 1,676 patients 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: All variants were registered in a locus-specific database called the UMD-MEN1 database (www.umd.be/MEN1/), which provides an exhaustive overview of the MEN1 variants present in the French population. For each variant, a classification based on the clinical data collection from patients and a standardized analysis is publicly available. Clinical data collections allow the determination of genotype-phenotype correlation and age-related penetrance of lesions in the cohort.
Volume 63
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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