PMID- 12089860
OWN - NLM
STAT- MEDLINE
DCOM- 20021001
LR  - 20091119
IS  - 0043-5325 (Print)
IS  - 0043-5325 (Linking)
VI  - 114
IP  - 7
DP  - 2002 Apr 15
TI  - Multiple endocrine neoplasia type 1 (MEN1) in Austria.
PG  - 252-7
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare cancer predisposition 
      syndrome. It results from the autosomal dominant inheritance of inactivating 
      germ-line mutations of the MEN1 tumor suppressor gene. Mutation carriers are 
      prone to develop tumors, preferentially, of the parathyroid and anterior 
      pituitary glands as well as the enteropancreatic endocrine tissues. Because such 
      tumors also occur without the MEN1 context, we have set up a molecular genetic 
      screening program in Austria to discriminate between heritable and non-heritable 
      tumor forms. Following the recognition of a MEN1-specific germ-line mutation in a 
      tumor patient, we extend the screening to all first-degree relatives. To date, we 
      have studied 42 individuals by sequencing the coding exons 2 to 10 of the MEN1 
      gene. A germ-line mutation was discovered in four of seven families suspected, 
      clinically, to have MEN1, and in 3 of 22 (13.6%) patients with a presumed 
      sporadic endocrine tumor. The respective mutations were also detected in three 
      first-degree relatives of whom only one 6-year-old boy was asymptomatic at the 
      time of investigation. The possibility to clearly discriminate between 
      genetically predisposed and non-predisposed individuals has a significant impact 
      on the diagnosis and clinical management of both patients and their relatives. 
      Both symptomatic and asymptomatic mutation carriers can be closely monitored, 
      thereby allowing early recognition and treatment of developing tumors. 
      Non-affected relatives, on the other hand, do not require further controls. 
      Finally, this approach also provides the information necessary for reliable 
      genetic counseling.
FAU - Weinhausel, Andreas
AU  - Weinhausel A
AD  - Children's Cancer Research Institute, St Anna Children's Hospital, Vienna, 
      Austria.
FAU - Kaserer, Klaus
AU  - Kaserer K
FAU - Vierhapper, Heinrich
AU  - Vierhapper H
FAU - Niederle, Bruno
AU  - Niederle B
FAU - Haas, Oskar A
AU  - Haas OA
CN  - Study Group of Multiple Endocrine Neoplasia Austria
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Austria
TA  - Wien Klin Wochenschr
JT  - Wiener klinische Wochenschrift
JID - 21620870R
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Austria
MH  - Child
MH  - DNA Mutational Analysis
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - *Genetic Testing
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Neoplasm Proteins/genetics
MH  - *Penetrance
MH  - Polymerase Chain Reaction
MH  - *Proto-Oncogene Proteins
MH  - Risk
EDAT- 2002/07/02 10:00
MHDA- 2002/10/03 04:00
CRDT- 2002/07/02 10:00
PHST- 2002/07/02 10:00 [pubmed]
PHST- 2002/10/03 04:00 [medline]
PHST- 2002/07/02 10:00 [entrez]
PST - ppublish
SO  - Wien Klin Wochenschr. 2002 Apr 15;114(7):252-7.