PMID- 10617276
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20191103
IS  - 1052-9551 (Print)
IS  - 1052-9551 (Linking)
VI  - 8
IP  - 4
DP  - 1999 Dec
TI  - Molecular pathology of multiple endocrine neoplasia type I: two novel germline 
      mutations and updated classification of mutations affecting MEN1 gene.
PG  - 195-204
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder 
      characterized by the combined development of tumors in several endocrine glands 
      and other tissues. The MEN1 gene was recently identified and isolated by 
      positional cloning. This gene was screened in two unrelated MEN1 Spanish kindreds 
      (with four affected members and seven asymptomatic members) using single-strand 
      conformation polymorphism, DNA sequencing, and restriction enzyme analysis. Two 
      novel germline mutations were identified: a missense in exon 2 (H139R) and a 
      splice-site in intron 9 (1461-2A>C). These findings allowed us to identify the 
      MEN1 carriers among the seven asymptomatic members analyzed. An updated review of 
      the mutations and polymorphisms found in the analysis of the MEN1 gene is 
      provided. The report of all germline mutations causing MEN1 and easy access to 
      this updated information are both of special diagnostic interest, because this 
      greatly facilitates the task of attributing the disorder to a specific mutation 
      found in a given MEN1 family. This is especially helpful in the critical 
      differentiation of missense mutations from nonsynonymous polymorphisms that fit 
      the pattern of segregation of the disease, but do not cause it.
FAU - Martin-Campos, J M
AU  - Martin-Campos JM
AD  - Serveis de Bioquimica, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma 
      de Barcelona, Spain.
FAU - Catasus, L
AU  - Catasus L
FAU - Chico, A
AU  - Chico A
FAU - Mayoral, C
AU  - Mayoral C
FAU - Lagarda, E
AU  - Lagarda E
FAU - Gallart, L
AU  - Gallart L
FAU - Mato, E
AU  - Mato E
FAU - Rodriguez-Espinosa, J
AU  - Rodriguez-Espinosa J
FAU - Matias-Guiu, X
AU  - Matias-Guiu X
FAU - De Leiva, A
AU  - De Leiva A
FAU - Blanco-Vaca, F
AU  - Blanco-Vaca F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Diagn Mol Pathol
JT  - Diagnostic molecular pathology : the American journal of surgical pathology, part 
      B
JID - 9204924
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Neoplasm)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - DNA Primers/chemistry
MH  - DNA, Neoplasm/analysis
MH  - Female
MH  - *Genetic Techniques
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - Restriction Mapping
MH  - Sequence Analysis, DNA
EDAT- 2000/01/05 00:00
MHDA- 2000/01/05 00:01
CRDT- 2000/01/05 00:00
PHST- 2000/01/05 00:00 [pubmed]
PHST- 2000/01/05 00:01 [medline]
PHST- 2000/01/05 00:00 [entrez]
AID - 10.1097/00019606-199912000-00005 [doi]
PST - ppublish
SO  - Diagn Mol Pathol. 1999 Dec;8(4):195-204. doi: 10.1097/00019606-199912000-00005.