PMID- 10367940
OWN - NLM
STAT- MEDLINE
DCOM- 19990720
LR  - 20061115
IS  - 0965-0407 (Print)
IS  - 0965-0407 (Linking)
VI  - 10
IP  - 11-12
DP  - 1998
TI  - Frequent mutations in the beta-catenin gene in desmoid tumors from patients 
      without familial adenomatous polyposis.
PG  - 591-4
AB  - Mutations in the APC gene contribute to development of sporadic desmoid tumors as 
      well as to the hereditary tumors that usually accompany familial adenomatous 
      polyposis (FAP). Adenomatous polyposis coli (APC) mutations cause an 
      intracellular accumulation of beta-catenin that results in abnormal signaling in 
      the wnt/wingless pathway. Mutations of the beta-catenin gene itself have also 
      been noted in several types of tumors. In this study we screened the beta-catenin 
      gene in 13 sporadic desmoid tumors for alterations in exon 3, which encodes 
      several serine/threonine residues that are targets for phosphorylation by 
      GSK-3beta. Somatic substitutions at codons 41 (threonine) and 45 (serine) were 
      identified in seven independent tumors, respectively. Although no APC mutations 
      were detected among the remaining six tumors, we found accumulation of 
      beta-catenin by Western blotting analysis in one such tumor for which frozen 
      tissues were available. Our results have suggested that possible involvement of 
      beta-catenin activation by beta-catenin gene mutation or alteration of other 
      factor(s) can contribute to desmoid tumorigenesis.
FAU - Miyoshi, Y
AU  - Miyoshi Y
AD  - Department of Medical Genetics, Osaka University Medical School, Suita-shi, 
      Japan.
FAU - Iwao, K
AU  - Iwao K
FAU - Nawa, G
AU  - Nawa G
FAU - Yoshikawa, H
AU  - Yoshikawa H
FAU - Ochi, T
AU  - Ochi T
FAU - Nakamura, Y
AU  - Nakamura Y
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Oncol Res
JT  - Oncology research
JID - 9208097
RN  - 0 (CTNNB1 protein, human)
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (Trans-Activators)
RN  - 0 (beta Catenin)
SB  - IM
MH  - Adenomatous Polyposis Coli
MH  - Blotting, Western
MH  - Cytoskeletal Proteins/*genetics
MH  - Fibromatosis, Aggressive/*genetics
MH  - Humans
MH  - *Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Trans-Activators
MH  - beta Catenin
EDAT- 1999/06/15 00:00
MHDA- 1999/06/15 00:01
CRDT- 1999/06/15 00:00
PHST- 1999/06/15 00:00 [pubmed]
PHST- 1999/06/15 00:01 [medline]
PHST- 1999/06/15 00:00 [entrez]
PST - ppublish
SO  - Oncol Res. 1998;10(11-12):591-4.