PMID- 30339208
OWN - NLM
STAT- MEDLINE
DCOM- 20191217
LR  - 20191217
IS  - 1945-7197 (Electronic)
IS  - 0021-972X (Linking)
VI  - 104
IP  - 3
DP  - 2019 Mar 1
TI  - UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients 
      From the French Population.
PG  - 753-764
LID - 10.1210/jc.2018-01170 [doi]
AB  - 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 was to facilitate interpretation of variants and improve the 
      genetic counseling and medical care of families of patients with MEN1. DESIGN, 
      SETTING, AND PATIENTS: The TENGEN network (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. Patients and their variants 
      were registered in the locus-specific UMD-MEN1 database (www.umd.be/MEN1/). MAIN 
      OUTCOMES: Variant classification, age-related penetrance, and odds ratios. 
      RESULTS: A total of 370 distinct variants reported in 1676 patients, including 
      181 unpublished variants, have been registered. This database analysis revealed a 
      low frequency (6.6%) of benign or likely benign missense variants in MEN1. Eight 
      families (1.9%) had members with familial isolated hyperparathyroidism and 
      harbored the same mutations as that found in families with authentic MEN1. An 
      association existed between large rearrangements and an earlier onset of the 
      disease, whereas no difference was observed between truncating and nontruncating 
      variants. CONCLUSION: The 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.
FAU - Romanet, Pauline
AU  - Romanet P
AD  - Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital 
      La Conception, Marseille, France.
FAU - Mohamed, Amira
AU  - Mohamed A
AD  - Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France.
FAU - Giraud, Sophie
AU  - Giraud S
AD  - Genetics Department, Hospices Civils de Lyon, University Hospital (HCL), East 
      Pathology Center, Lyon, Bron Cedex, France.
FAU - Odou, Marie-Francoise
AU  - Odou MF
AD  - Service de Biochimie et Biologie Moleculaire "Hormonologie, 
      Metabolisme-Nutrition, Oncologie", Centre de Biologie Pathologie, Centre 
      Hospitalier Universitaire Lille, Lille Cedex, France.
FAU - North, Marie-Odile
AU  - North MO
AD  - Service de Genetique et Biochimie Moleculaires, Hopital Cochin, Assistance 
      Publique-Hopitaux de Paris, Paris, France.
FAU - Pertuit, Morgane
AU  - Pertuit M
AD  - Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France.
FAU - Pasmant, Eric
AU  - Pasmant E
AD  - Service de Genetique et Biochimie Moleculaires, Hopital Cochin, Assistance 
      Publique-Hopitaux de Paris, Paris, France.
FAU - Coppin, Lucie
AU  - Coppin L
AD  - Univ. Lille, INSERM, CHU Lille, UMR-S 1172, - JPARC - Jean-Pierre Aubert Research 
      Center, Lille, France.
FAU - Guien, Celine
AU  - Guien C
AD  - Aix Marseille Univ, APHM, INSERM, MMG, U 1251 Bioinformatic Team, Marseille, 
      France.
FAU - Calender, Alain
AU  - Calender A
AD  - Genetics Department, Hospices Civils de Lyon, University Hospital (HCL), East 
      Pathology Center, Lyon, Bron Cedex, France.
FAU - Borson-Chazot, Francoise
AU  - Borson-Chazot F
AD  - Hospices Civils de Lyon, Federation d'Endocrinologie, Universite Claude Bernard 
      Lyon 1, HESPER EA 7425, Lyon, France.
FAU - Beroud, Christophe
AU  - Beroud C
AD  - Aix Marseille Univ, APHM, INSERM, MMG, Department of Genetics, Hospital La Timone 
      Enfants, Marseille, France.
FAU - Goudet, Pierre
AU  - Goudet P
AD  - Department of Endocrine Surgery, University Hospital of Dijon, and INSERM, U866, 
      Dijon, France.
AD  - Epidemiology and Clinical Research in Digestive Oncology Team, and INSERM, 
      CIC1432, Clinical Epidemiology Unit, University Hospital of Dijon, Clinical 
      Investigation Center, Clinical Epidemiology/Clinical Trials Unit, Dijon, France.
FAU - Barlier, Anne
AU  - Barlier A
AD  - Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology, Hospital 
      La Conception, Marseille, France.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age Factors
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Child, Preschool
MH  - *Databases, Protein
MH  - Female
MH  - France
MH  - Genetic Testing
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Mutation
MH  - Penetrance
MH  - Proto-Oncogene Proteins/*genetics
MH  - Young Adult
EDAT- 2018/10/20 06:00
MHDA- 2019/12/18 06:00
CRDT- 2018/10/20 06:00
PHST- 2018/05/29 00:00 [received]
PHST- 2018/10/15 00:00 [accepted]
PHST- 2018/10/20 06:00 [pubmed]
PHST- 2019/12/18 06:00 [medline]
PHST- 2018/10/20 06:00 [entrez]
AID - 5134196 [pii]
AID - 10.1210/jc.2018-01170 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2019 Mar 1;104(3):753-764. doi: 10.1210/jc.2018-01170.