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Genetic and epigenetic modification of mismatch repair genes hMSH2 and hMLH1 in sporadic breast cancer with microsatellite instability

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Author(s)
Hiroaki MurataNada H KhattarYuna KangLiya GuGuo-Min Li
Keimyung Author(s)
Kang, Yu Na
Department
Dept. of Pathology (병리학)
Journal Title
Oncogene
Issued Date
2002
Volume
21
Issue
37
Keyword
breast cancerhMSH2hMLH1microsatellite instabilityhypermethylation
Abstract
Breast cancer is the most common cancer in women, but
its pathogenesis is still unclear. Microsatellite instability
(MSI) has been identi®ed in breast cancer cells,
suggesting an association with mismatch repair defects.
To test this hypothesis, we investigated MSI, protein
expression of hMSH2 and hMLH1, as well as genetic
and epigenetic modi®cations of these two genes in 32
sporadic breast tumors. MSI was identi®ed in 15 cases.
Immunohistochemistry analysis revealed that all MSI
cases but one had lower than normal expression of
hMSH2 (nine cases), hMLH1 (12 cases), or both (seven
cases). In tumors with MSI, both genetic and epigenetic
modi®cations of these mismatch repair genes were also
identi®ed. Eight cases harbored mutations or polymorph-
isms in hMSH2 and hMLH1, and 10 exhibited
hypermethylation in the promoter region of hMLH1.
These results suggest that both genetic and epigenetic
alterations of hMSH2 and especially of hMLH1
contribute to genomic instability and tumorigenesis in
sporadic breast cancer.
Oncogene (2002) 21, 5696 ± 5703. doi:10.1038/sj.onc.
1205683
Keywords: hMSH2; hMLH1; microsatellite instability;
hypermethylation; breast cancer
Keimyung Author(s)(Kor)
강유나
Publisher
School of Medicine
Citation
Hiroaki Murata et al. (2002). Genetic and epigenetic modification of mismatch repair genes hMSH2 and hMLH1 in sporadic breast cancer with microsatellite instability. Oncogene, 21(37), 5696–5703. doi: 10.1038/sj.onc.1205683
Type
Article
ISSN
0950-9232
Source
http://www.nature.com/articles/1205683
DOI
10.1038/sj.onc.1205683
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33594
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pathology (병리학)
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