PMID- 10849016
OWN - NLM
STAT- MEDLINE
DCOM- 20000804
LR  - 20190826
IS  - 0014-2972 (Print)
IS  - 0014-2972 (Linking)
VI  - 30
IP  - 6
DP  - 2000 Jun
TI  - Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.
PG  - 487-92
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal, 
      dominantly inherited cancer syndrome, with tumours in various endocrine glands. 
      In 1997 the responsible tumour suppressor gene was identified. MEN1 gene 
      germ-line mutations are detected in the vast majority of MEN 1 patients, however, 
      with regard to case-finding, unfortunately only at a very low frequency in 
      patients with apparently sporadic MEN 1-related tumours. In order to increase the 
      detection rate of disease gene carriers among patients with apparently sporadic 
      MEN 1-related tumours, clinical criteria were needed. DESIGN AND RESULTS: In this 
      study MEN1 gene germ-line mutations were revealed in 16/16 MEN 1 
      patients/families (100%). Based on our clinical experience with MEN 1 
      patients/families we formulated clinical criteria to identify disease gene 
      carriers among patients with apparently sporadic MEN 1-related tumours. The 
      criteria for MEN 1-suspected patients are: young age at onset (< 35 years) and/or 
      multiple MEN 1-related lesions in a single organ or two distinct organs affected. 
      Application of these criteria yielded MEN1 gene germ-line mutations in nine of 15 
      MEN 1-suspected patients (60%), thus identifying novel MEN 1 families. Follow up 
      was also guaranteed for patients not fulfilling these criteria. CONCLUSIONS: The 
      clinical criteria for MEN 1-suspected patients increase the detection rate of 
      germ-line MEN1 gene mutations among patients with apparently sporadic MEN 
      1-related tumours. These criteria may be used for (presymptomatic) identification 
      of MEN 1 disease gene-carriers, thus enabling early detection of tumour 
      development and timely treatment, as well as genetic counselling.
FAU - Roijers, J F
AU  - Roijers JF
AD  - University Medical Center Utrecht, The Netherlands.
FAU - de Wit, M J
AU  - de Wit MJ
FAU - van der Luijt, R B
AU  - van der Luijt RB
FAU - Ploos van Amstel, H K
AU  - Ploos van Amstel HK
FAU - Hoppener, J W
AU  - Hoppener JW
FAU - Lips, C J
AU  - Lips CJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Clin Invest
JT  - European journal of clinical investigation
JID - 0245331
RN  - 0 (DNA, Neoplasm)
RN  - 0 (RNA, Neoplasm)
SB  - IM
MH  - Adult
MH  - Aged
MH  - DNA Mutational Analysis/*methods
MH  - DNA, Neoplasm/isolation & purification
MH  - Exons
MH  - Family Health
MH  - Female
MH  - Genetic Testing/*methods
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Introns
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics
MH  - RNA, Neoplasm/isolation & purification
EDAT- 2000/06/10 09:00
MHDA- 2000/08/12 11:00
CRDT- 2000/06/10 09:00
PHST- 2000/06/10 09:00 [pubmed]
PHST- 2000/08/12 11:00 [medline]
PHST- 2000/06/10 09:00 [entrez]
AID - eci664 [pii]
AID - 10.1046/j.1365-2362.2000.00664.x [doi]
PST - ppublish
SO  - Eur J Clin Invest. 2000 Jun;30(6):487-92. doi: 10.1046/j.1365-2362.2000.00664.x.