PMID- 10576763
OWN - NLM
STAT- MEDLINE
DCOM- 19991228
LR  - 20190905
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 141
IP  - 5
DP  - 1999 Nov
TI  - Germline MEN1 mutations in sixteen Japanese families with multiple endocrine 
      neoplasia type 1 (MEN1).
PG  - 475-80
AB  - OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome of endocrine 
      tumors involving the parathyroids, anterior pituitary and enteropancreatic 
      neuroendocrine tissues, and is inherited in an autosomal dominant manner. 
      Recently, the gene responsible for this syndrome, MEN1, was positionally cloned 
      in 11q13. We aimed to assess the significance of MEN1 gene diagnostics in 
      families with MEN1. DESIGN: Sixteen probands of familial MEN1 and their 40 family 
      members were subjected to the study. METHODS: Full-length sequencing of the open 
      reading frame and exon-intron boundaries in the MEN1 gene was performed with 
      probands of familial MEN1. Family members were examined for the identified 
      mutation in the proband. RESULTS: We identified heterozygous germline mutations 
      of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the 
      highest detectability of MEN1 mutations in familial MEN1 among studies that 
      examined more than 10 families. Eleven kinds of the identified MEN1 germline 
      mutations were novel. More than half were nonsense or frameshift mutations 
      resulting in a premature stop codon (9/15; 60%), and no mutation hot spots or no 
      apparent genotype-phenotype relationships were observed, in support of the 
      results of other studies. We identified 40 mutant MEN1 gene carriers and 16 
      non-carriers in the course of the present study in those families. CONCLUSIONS: 
      Analysis of the germline mutations in the MEN1 gene, providing significantly 
      useful clinical information to probands and family members of MEN1, should be 
      considered as a standard procedure and categorized as belonging to Group 1 cancer 
      predisposition testing by the American Society of Clinical Oncology.
FAU - Hai, N
AU  - Hai N
AD  - Department of Laboratory Medicine, Kyoto University School of Medicine, Kyoto 
      606-8507, Japan.
FAU - Aoki, N
AU  - Aoki N
FAU - Matsuda, A
AU  - Matsuda A
FAU - Mori, T
AU  - Mori T
FAU - Kosugi, S
AU  - Kosugi S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
RN  - 0 (DNA Primers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Aged
MH  - DNA/chemistry
MH  - DNA Primers/chemistry
MH  - Electrophoresis, Agar Gel
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - Humans
MH  - Japan
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Mutation/*genetics
MH  - Neoplasm Proteins/chemistry/*genetics
MH  - Pancreatic Neoplasms/*genetics
MH  - Parathyroid Neoplasms/*genetics
MH  - Pituitary Neoplasms/*genetics
MH  - Polymerase Chain Reaction
MH  - *Proto-Oncogene Proteins
MH  - Sequence Analysis, DNA
EDAT- 1999/11/27 00:00
MHDA- 1999/11/27 00:01
CRDT- 1999/11/27 00:00
PHST- 1999/11/27 00:00 [pubmed]
PHST- 1999/11/27 00:01 [medline]
PHST- 1999/11/27 00:00 [entrez]
AID - 1410475 [pii]
AID - 10.1530/eje.0.1410475 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1999 Nov;141(5):475-80. doi: 10.1530/eje.0.1410475.