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MCPH1 protein expression and polymorphisms are associated with risk of breast cancer

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Author(s)
Yong Hwa JoHye Ok KimJuhie LeeSang Sook LeeChang Hoon ChoIn Sug KangWon Jae ChoeHyung Hwan BaikKyung-Sik Yoon
Keimyung Author(s)
Lee, Sang Sook
Department
Dept. of Pathology (병리학)
Journal Title
Gene
Issued Date
2013
Volume
517
Issue
2
Abstract
Microcephalin 1 (MCPH1) has a crucial role in the DNA damage response by promoting the expression
of checkpoint kinase 1 (CHK1) and breast cancer susceptibility gene 1 (BRCA1). MCPH1 containing BRCT
domain has been suggested as a tumor suppressor in breast and ovarian cancers. We analyzed the effect
of both protein expression and MCPH1 polymorphisms in breast cancer patients. Low nuclear expression
of microcephalin was present in 52.4% of breast cancers and was associated with allele T in rs2912010
(p=0.046). However, cytoplasmic microcephalin expression increased with increasing grade (p=0.010).
An association between low nucleus microcephalin expression and allele T was identified in rs2912010
(p=0.046). After data analysis, allele distribution of the MCPH1 polymorphisms was not different between
breast cancer patients and healthy controls. But the polymorphism was associated with negative status for
ER (rs2912010/C2302T; p=0.032, rs1057090/C2358T; p=0.027, rs2912016/C2494A; p=0.024), and allele
T in both rs2912010 and rs1057090 was associated with increasing tumor grade (rs2912010; p=0.040,
rs1057090; p=0.043) in breast cancer. We are first to report that association of MCPH1 protein expression
and its polymorphisms in breast cancer. The MCPH1 polymorphisms and protein expression were associated
with tumorigenesis in breast cancer and may be a useful biomarker for identification of the aggressive types
of breast cancer.
Keimyung Author(s)(Kor)
이상숙
Publisher
School of Medicine
Citation
Yong Hwa Jo et al. (2013). MCPH1 protein expression and polymorphisms are associated with risk
of breast cancer. Gene, 517(2), 184–190. doi: 10.1016/j.gene.2012.12.088
Type
Article
ISSN
0378-1119
Source
http://lps3.www.sciencedirect.com.proxy.dsmc.or.kr/science/article/pii/S0378111912016472?via%3Dihub
DOI
10.1016/j.gene.2012.12.088
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35767
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pathology (병리학)
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