PMID- 10398436
OWN - NLM
STAT- MEDLINE
DCOM- 19990805
LR  - 20051117
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 25
IP  - 4
DP  - 1999 Aug
TI  - Beta-catenin accumulation and mutation of the CTNNB1 gene in hepatoblastoma.
PG  - 399-402
AB  - Hepatoblastoma is a rare malignant tumor of the liver that occurs in children at 
      an average age of 2 to 3 years. Epidemiologic studies have shown an increased
      frequency of this tumor type in families affected by adenomatous polyposis coli. 
      In addition to the epidemiologic data, molecular genetic studies suggest that
      inactivation of the APC tumor suppressor may be involved in hepatoblastoma
      tumorigenesis. A major function of APC is the downregulation of beta-catenin, a
      transcription-activating protein with oncogenic potential. In an ongoing
      immunohistochemical study of beta-catenin expression in sporadic cases of tumor
      types that are associated with adenomatous polyposis coli, we observed increased 
      beta-catenin levels in the cytoplasm and in the nuclei of three investigated
      hepatoblastomas. Sequencing of exon 3 of the beta-catenin gene (CTNNB1) revealed 
      an activating mutation in one of the tumor samples. Our data indicate for the
      first time that beta-catenin accumulation may play a role in the development of
      hepatoblastoma and that activating mutations of the beta-catenin gene may
      substitute biallelic APC inactivation in this tumor type. Genes Chromosomes
      Cancer 25:399-402, 1999.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Blaker, H
AU  - Blaker H
AD  - Department of Pathology, University of Heidelberg, Heidelberg, Germany.
      hendrik_blaeker@ukl.uni-heidelberg.de
FAU - Hofmann, W J
AU  - Hofmann WJ
FAU - Rieker, R J
AU  - Rieker RJ
FAU - Penzel, R
AU  - Penzel R
FAU - Graf, M
AU  - Graf M
FAU - Otto, H F
AU  - Otto HF
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (CTNNB1 protein, human)
RN  - 0 (Cadherins)
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (Trans-Activators)
RN  - 0 (beta Catenin)
SB  - IM
MH  - Cadherins/genetics/metabolism
MH  - Cytoskeletal Proteins/*genetics/*metabolism
MH  - Genes, APC
MH  - Hepatoblastoma/*genetics/*metabolism
MH  - Humans
MH  - Liver Neoplasms/*genetics/*metabolism
MH  - Mutation/*genetics
MH  - *Trans-Activators
MH  - beta Catenin
EDAT- 1999/07/09 00:00
MHDA- 1999/07/09 00:01
CRDT- 1999/07/09 00:00
PHST- 1999/07/09 00:00 [pubmed]
PHST- 1999/07/09 00:01 [medline]
PHST- 1999/07/09 00:00 [entrez]
AID - 10.1002/(SICI)1098-2264(199908)25:4<399::AID-GCC14>3.0.CO;2-X [pii]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1999 Aug;25(4):399-402.