PMID- 23376981
OWN - NLM
STAT- MEDLINE
DCOM- 20131101
LR  - 20220408
IS  - 1460-2083 (Electronic)
IS  - 0964-6906 (Linking)
VI  - 22
IP  - 10
DP  - 2013 May 15
TI  - Higher risk of death among MEN1 patients with mutations in the JunD interacting 
      domain: a Groupe d'etude des Tumeurs Endocrines (GTE) cohort study.
PG  - 1940-8
LID - 10.1093/hmg/ddt039 [doi]
AB  - Multiple endocrine neoplasia syndrome type 1 (MEN1), which is secondary to 
      mutation of the MEN1 gene, is a rare autosomal-dominant disease that predisposes 
      mutation carriers to endocrine tumors. Although genotype-phenotype studies have 
      so far failed to identify any statistical correlations, some families harbor 
      recurrent tumor patterns. The function of MENIN is unclear, but has been 
      described through the discovery of its interacting partners. Mutations in the 
      interacting domains of MENIN functional partners have been shown to directly 
      alter its regulation abilities. We report on a cohort of MEN1 patients from the 
      Groupe d'etude des Tumeurs Endocrines. Patients with a molecular diagnosis and a 
      clinical follow-up, totaling 262 families and 806 patients, were included. 
      Associations between mutation type, location or interacting factors of the MENIN 
      protein and death as well as the occurrence of MEN1-related tumors were tested 
      using a frailty Cox model to adjust for potential heterogeneity across families. 
      Accounting for the heterogeneity across families, the overall risk of death was 
      significantly higher when mutations affected the JunD interacting domain 
      (adjusted HR = 1.88: 95%-CI = 1.15-3.07). Patients had a higher risk of death 
      from cancers of the MEN1 spectrum (HR = 2.34; 95%-CI = 1.23-4.43). This 
      genotype-phenotype correlation study confirmed the lack of direct 
      genotype-phenotype correlations. However, patients with mutations affecting the 
      JunD interacting domain had a higher risk of death secondary to a MEN1 tumor and 
      should thus be considered for surgical indications, genetic counseling and 
      follow-up.
FAU - Thevenon, Julien
AU  - Thevenon J
AD  - CHU de Dijon, Centre de Genetique et Centre de Reference Anomalies du 
      Developpement et Syndromes Malformatifs, Universite de Bourgogne, Dijon, France.
FAU - Bourredjem, Abderrahmane
AU  - Bourredjem A
FAU - Faivre, Laurence
AU  - Faivre L
FAU - Cardot-Bauters, Catherine
AU  - Cardot-Bauters C
FAU - Calender, Alain
AU  - Calender A
FAU - Murat, Arnaud
AU  - Murat A
FAU - Giraud, Sophie
AU  - Giraud S
FAU - Niccoli, Patricia
AU  - Niccoli P
FAU - Odou, Marie-Francoise
AU  - Odou MF
FAU - Borson-Chazot, Francoise
AU  - Borson-Chazot F
FAU - Barlier, Anne
AU  - Barlier A
FAU - Lombard-Bohas, Catherine
AU  - Lombard-Bohas C
FAU - Clauser, Eric
AU  - Clauser E
FAU - Tabarin, Antoine
AU  - Tabarin A
FAU - Parfait, Beatrice
AU  - Parfait B
FAU - Chabre, Olivier
AU  - Chabre O
FAU - Castermans, Emilie
AU  - Castermans E
FAU - Beckers, Albert
AU  - Beckers A
FAU - Ruszniewski, Philippe
AU  - Ruszniewski P
FAU - Le Bras, Morgane
AU  - Le Bras M
FAU - Delemer, Brigitte
AU  - Delemer B
FAU - Bouchard, Philippe
AU  - Bouchard P
FAU - Guilhem, Isabelle
AU  - Guilhem I
FAU - Rohmer, Vincent
AU  - Rohmer V
FAU - Goichot, Bernard
AU  - Goichot B
FAU - Caron, Philippe
AU  - Caron P
FAU - Baudin, Eric
AU  - Baudin E
FAU - Chanson, Philippe
AU  - Chanson P
FAU - Groussin, Lionel
AU  - Groussin L
FAU - Du Boullay, Helene
AU  - Du Boullay H
FAU - Weryha, Georges
AU  - Weryha G
FAU - Lecomte, Pierre
AU  - Lecomte P
FAU - Penfornis, Alfred
AU  - Penfornis A
FAU - Bihan, Helene
AU  - Bihan H
FAU - Archambeaud, Francoise
AU  - Archambeaud F
FAU - Kerlan, Veronique
AU  - Kerlan V
FAU - Duron, Francoise
AU  - Duron F
FAU - Kuhn, Jean-Marc
AU  - Kuhn JM
FAU - Verges, Bruno
AU  - Verges B
FAU - Rodier, Michel
AU  - Rodier M
FAU - Renard, Michel
AU  - Renard M
FAU - Sadoul, Jean-Louis
AU  - Sadoul JL
FAU - Binquet, Christine
AU  - Binquet C
FAU - Goudet, Pierre
AU  - Goudet P
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20130131
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (JunD protein, human)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Proto-Oncogene Proteins c-jun)
SB  - IM
MH  - Family
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/metabolism/*mortality
MH  - *Mutation
MH  - Protein Structure, Tertiary
MH  - Proto-Oncogene Proteins/*genetics/metabolism
MH  - Proto-Oncogene Proteins c-jun/*genetics/metabolism
MH  - Risk Factors
EDAT- 2013/02/05 06:00
MHDA- 2013/11/02 06:00
CRDT- 2013/02/05 06:00
PHST- 2013/02/05 06:00 [entrez]
PHST- 2013/02/05 06:00 [pubmed]
PHST- 2013/11/02 06:00 [medline]
AID - ddt039 [pii]
AID - 10.1093/hmg/ddt039 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2013 May 15;22(10):1940-8. doi: 10.1093/hmg/ddt039. Epub 2013 Jan 
      31.