Document Detail


Interaction between BRCA1/BRCA2 and ATM/ATR associate with breast cancer susceptibility in a Chinese Han population.
MedLine Citation:
PMID:  20513533     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The etiology of breast cancer is associated with several factors, the most important being genetic susceptibility. Both BRCA1/2 and ATM/ATR play a role in DNA repair pathways and breast cancer. The aims of our investigation were to confirm the contributions of the known polymorphisms in these genes and investigate the pattern of their interaction. A total of 360 Han Chinese blood samples were collected from 180 patients with breast cancer and 180 healthy controls. In total, five single-nucleotide polymorphisms (SNP) in these genes were genotyped using polymerase chain reaction-based restriction fragment length polymorphism analysis. Combined effects of paired SNP were tested by the Multifactor Dimensionality Reduction (MDR) method and theory of Information Gain (IG). By MDR analysis, the best model was determined to be a five-locus site model. Interaction tree by the hierarchical clustering method showed that the ATR mutant rs13091637 gave a maximum stand-alone IG value, while the ATM mutant rs611646 showed the lowest IG value but had the top interaction effect. These results suggest that combined effects of the polymorphisms in these genes may confer susceptibility to breast cancer in a Chinese Han cohort (n = 360). Each of the variants, though, performs a different role in the pathogenetic mechanism of breast cancer.
Authors:
Keren Wang; Yuqin Ye; Zheli Xu; Xuan Zhang; Zhifu Hou; Youbin Cui; Yan Song
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  200     ISSN:  1873-4456     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-06-01     Completed Date:  2010-06-17     Revised Date:  2011-11-02    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  40-6     Citation Subset:  IM    
Copyright Information:
2010 Elsevier Inc. All rights reserved.
Affiliation:
China Japan Union Hospital of Jilin University, Changchun, PR China.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Asian Continental Ancestry Group / genetics
Breast Neoplasms / genetics*
Cell Cycle Proteins / genetics*
China / ethnology
DNA-Binding Proteins / genetics*
Female
Genes, BRCA1*
Genes, BRCA2*
Genetic Predisposition to Disease*
Genotype
Humans
Middle Aged
Polymorphism, Single Nucleotide
Protein-Serine-Threonine Kinases / genetics*
Risk
Tumor Suppressor Proteins / genetics*
Chemical
Reg. No./Substance:
0/Cell Cycle Proteins; 0/DNA-Binding Proteins; 0/Tumor Suppressor Proteins; EC 2.7.1.-/ATR protein, human; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.1/ataxia telangiectasia mutated protein

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