PMID- 11741745
OWN - NLM
STAT- MEDLINE
DCOM- 20020201
LR  - 20190720
IS  - 0304-3835 (Print)
IS  - 0304-3835 (Linking)
VI  - 175
IP  - 2
DP  - 2002 Jan 25
TI  - Biallelic inactivation by somatic mutations of the MEN1 gene in sporadic 
      parathyroid tumors.
PG  - 175-9
AB  - We report three sporadic parathyroid tumors with biallelic inactivation of the 
      multiple endocrine neoplasia type 1 (MEN1) gene. Three parathyroid tumors had two 
      somatic mutations (K119del and 864del8, 363insT and 1767delT, and 508del33 and 
      W341X, respectively). The mutations in both alleles detected by long-range 
      polymerase chain reaction and subcloning in three tumors would likely result in a 
      nonfunctional menin protein in parathyroid glands. These results show that the 
      MEN1 gene is inactivated not only by a combination of somatic mutations and loss 
      of heterozygosity, but also by somatic double mutations located on different 
      alleles. The results directly confirmed the participation of MEN1 in the 
      tumorigenesis of sporadic parathyroid tumors.
FAU - Tanaka, Chisato
AU  - Tanaka C
AD  - Otsuka Department of Molecular Nutrition, School of Medicine, The University of 
      Tokushima, 3-18-15 Kuramoto-cho, 770-8503, Tokushima, Japan.
FAU - Uchino, Shinya
AU  - Uchino S
FAU - Noguchi, Shiro
AU  - Noguchi S
FAU - Nishioka, Tatsuya
AU  - Nishioka T
FAU - Yamasaki, Hiromi
AU  - Yamasaki H
FAU - Hashimoto, Kozo
AU  - Hashimoto K
FAU - Yoshimoto, Katsuhiko
AU  - Yoshimoto K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Ireland
TA  - Cancer Lett
JT  - Cancer letters
JID - 7600053
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Female
MH  - *Genes, Tumor Suppressor
MH  - Germ-Line Mutation
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neoplasm Proteins/*genetics
MH  - Parathyroid Neoplasms/*pathology
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - Sequence Deletion
EDAT- 2001/12/14 10:00
MHDA- 2002/02/02 10:01
CRDT- 2001/12/14 10:00
PHST- 2001/12/14 10:00 [pubmed]
PHST- 2002/02/02 10:01 [medline]
PHST- 2001/12/14 10:00 [entrez]
AID - S0304383501007297 [pii]
AID - 10.1016/s0304-3835(01)00729-7 [doi]
PST - ppublish
SO  - Cancer Lett. 2002 Jan 25;175(2):175-9. doi: 10.1016/s0304-3835(01)00729-7.