PMID- 10468972
OWN - NLM
STAT- MEDLINE
DCOM- 20000509
LR  - 20190813
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 51
IP  - 1
DP  - 1999 Jul
TI  - Type 1 multiple endocrine neoplasia (MEN1): contribution of genetic analysis to 
      the screening and follow-up of a large French kindred.
PG  - 101-7
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal genetic 
      disorder, the clinical phenotype of which includes tumours of the parathyroids 
      and/or anterior pituitary and/or endocrine pancreas. The genetic defect has been 
      mapped to the chromosome 11q13 and the MEN1 gene has been recently identified, 
      thus allowing genetic screening in affected kindreds. The aim of this study was 
      to establish the usefulness of genetic screening in the follow-up of a large MEN1 
      kindred. PATIENTS: We describe a large kindred of 91 members, of whom 56 had 
      clinical, biochemical and genetic screening. Twenty eight of them have been 
      tested annually for the last 5 years. RESULTS: Although the precise mutation is 
      still undetermined in this kindred, genotypic determination confirmed linkage 
      with the MEN1 gene in affected members and excluded 28 members from annual 
      testing. By drawing our attention to susceptible subjects, genetic screening 
      improved the evaluation of age-related penetrance of the disease in the 3 
      generations from this kindred. For instance, annual screening showed conversion 
      from unaffected to affected phenotype in 4 subjects aged 14, 14, 15, and 17 
      years. Moreover, genetics helped us to evaluate the specificity of clinical or 
      biochemical markers, and thus to discard useless investigations. So far however, 
      the genetics have not helped to explain the phenotypic heterogeneity and 
      particularly low incidence of pancreatic tumours in this kindred. CONCLUSION: 
      Genetic screening is very useful in detecting high risk individuals for MEN 1, 
      since it avoids time-consuming and expensive investigations in non-affected 
      subjects. By providing better understanding of the age-related penetrance of this 
      syndrome, it improves the efficiency of screening. Genetic studies allow 
      differentiation between clinical and biochemical features that are useful in 
      follow-up and other confusing or unhelpful parameters.
FAU - Waterlot, C
AU  - Waterlot C
AD  - Clinique Medicale Marc Linquette, CHRU, Lille; Faculte de medecine, Universite de 
      Lille II, Lille, France.
FAU - Porchet, N
AU  - Porchet N
FAU - Bauters, C
AU  - Bauters C
FAU - Decoulx, M
AU  - Decoulx M
FAU - Wemeau, J L
AU  - Wemeau JL
FAU - Proye, C
AU  - Proye C
FAU - Degand, P M
AU  - Degand PM
FAU - Aubert, J P
AU  - Aubert JP
FAU - Cortet, C
AU  - Cortet C
FAU - Dewailly, D
AU  - Dewailly D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - 0 (Genetic Markers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Follow-Up Studies
MH  - Genetic Markers
MH  - Genetic Predisposition to Disease
MH  - *Genetic Testing
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Penetrance
MH  - Phenotype
MH  - *Proto-Oncogene Proteins
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
MH  - Sequence Analysis, DNA
EDAT- 1999/09/01 09:00
MHDA- 2000/05/16 09:00
CRDT- 1999/09/01 09:00
PHST- 1999/09/01 09:00 [pubmed]
PHST- 2000/05/16 09:00 [medline]
PHST- 1999/09/01 09:00 [entrez]
AID - cen747 [pii]
AID - 10.1046/j.1365-2265.1999.00747.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 1999 Jul;51(1):101-7. doi: 
      10.1046/j.1365-2265.1999.00747.x.