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Frameshift mutations in the bax gene are not involved in development of ovarian endometrioid carcinoma.

Authors
Cao, SN; Chang, KH; Luthra, R; Liu, J
Citation
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 16(10):1048-1052, 2003
Journal Title
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
ISSN
0893-39521530-0285
Abstract
The purpose of this study was to determine whether mutations in the Bax gene play a role in the development of ovarian endometrioid carcinoma with a microsatellite instability phenotype. We analyzed a total of 60 tumor specimens, 49 ovarian endometrioid carcinomas and 11 concurrent endometrial endometrioid carcinomas from 49 patients. Fourteen ovarian endometrioid carcinomas and 6 endometrial endometrioid carcinomas showed a microsatellite instability-high phenotype. Tumor and normal-tissue specimens from eight patients with a microsatellite instability-high phenotype colorectal carcinoma were included in this study as controls. The presence or absence of a mutation in the poly (G) 8 tract of the Bax gene was determined by polymerase chain reaction followed by direct DNA sequence analysis. A 1-base pair deletion at the poly (G) 8 tract and no expression of Bax and Bcl-2 proteins were identified in one microsatellite instability-high endometrial endometrioid carcinoma. Immunohistochemical staining for Bax and Bcl-2 proteins was negative on the tumor specimen that had this 1-base pair deletion. No mutations were found in the synchronous microsatellite instability-high ovarian endometrioid carcinoma from the same patient. In contrast, four (50%) of the eight microsatellite instability-high sporadic colorectal carcinomas had a mutation in the poly (G) 8 tract. Although Bax plays an important role in carcinogenesis of the colorectum with microsatellite instability-high phenotype, Bax may not play a direct role in the genesis of ovarian endometrioid carcinoma, regardless of microsatellite instability status.
MeSH terms
Carcinoma, Endometrioid/genetics*Carcinoma, Endometrioid/metabolismCarcinoma, Endometrioid/pathologyDNA Mutational AnalysisDNA, Neoplasm/analysisEndometrial Neoplasms/geneticsEndometrial Neoplasms/metabolismEndometrial Neoplasms/pathologyFemaleFrameshift Mutation*Hospitals, UniversityHumansImmunoenzyme TechniquesMicrosatellite RepeatsOvarian Neoplasms/genetics*Ovarian Neoplasms/metabolismOvarian Neoplasms/pathologyPolymerase Chain ReactionProto-Oncogene Proteins/genetics*Proto-Oncogene Proteins/metabolismProto-Oncogene Proteins c-bcl-2*Tumor Markers, Biological/metabolismbcl-2-Associated X Protein
DOI
10.1097/01.MP.0000089781.66207.D6
PMID
14559989
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Science
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