Document Detail

Germline copy number variations associated with breast cancer susceptibility in a Japanese population.
MedLine Citation:
PMID:  23275252     Owner:  NLM     Status:  MEDLINE    
Although copy number variations (CNVs) are expected to affect various diseases, little is known about the association between CNVs and breast cancer susceptibility. Therefore, we investigated this relation. Array comparative genomic hybridization was performed to search for candidate CNVs related to breast cancer susceptibility. Subsequent quantitative real-time polymerase chain reaction was carried out for confirmation. We found seven CNV markers associated with breast cancer risk. The means of the relative copy numbers of patients with a history of breast cancer and women in the control group were 0.8 and 1.8 for Hs06535529_cn on 1p36.12 (P < 0.0001), 2.9 and 2.2 for Hs03103056_cn on 3q26.1 (P < 0.0001), 1.2 and 1.8 for Hs03899300_cn on 15q26.3 (P < 0.0001), 1.0 and 1.5 for Hs03908783_cn on 15q26.3 (P < 0.0001), and 1.1 and 1.7 for Hs03898338_cn on 15q26.3 (P < 0.0001), respectively. Interestingly, nine or more copies of Hs04093415_cn on 22q12.3 were found only in 8/193 (4.1 %) patients with a history of breast cancer and in none of the controls (P = 0.0081). Similarly, 12 or more copies of Hs040908898_cn on 22q12.3 were found only in 7/193 (3.6 %) patients with a history of breast cancer and in none of the controls (P = 0.016). A combination of two CNVs resulted in 80.3 % sensitivity, 80.6 % specificity, 82.4 % positive predictive value, and 78.3 % negative predictive value for the prediction of breast cancer susceptibility. These findings may lead to a new means of risk assessment for breast cancer. Confirmatory studies using independent data sets are needed to support our findings.
Yutaka Suehiro; Takae Okada; Naoya Shikamoto; Yibo Zhan; Kohei Sakai; Naoko Okayama; Mitsuaki Nishioka; Tomoko Furuya; Atsunori Oga; Shigeto Kawauchi; Noriko Maeda; Michiko Tamesa; Yukiko Nagashima; Shigeru Yamamoto; Masaaki Oka; Yuji Hinoda; Kohsuke Sasaki
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-12-30
Journal Detail:
Title:  Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine     Volume:  34     ISSN:  1423-0380     ISO Abbreviation:  Tumour Biol.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-15     Completed Date:  2013-05-07     Revised Date:  2013-07-11    
Medline Journal Info:
Nlm Unique ID:  8409922     Medline TA:  Tumour Biol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  947-52     Citation Subset:  IM    
Department of Oncology & Laboratory Medicine, Yamaguchi University Graduate School of Medicine, 1-1-1 Minami-Kogushi, Ube, Yamaguchi, 755-8505, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics*
Breast Neoplasms / blood,  epidemiology,  etiology*
Case-Control Studies
Comparative Genomic Hybridization
DNA / blood,  genetics
DNA Copy Number Variations / genetics*
Genetic Predisposition to Disease*
Germ Cells / metabolism*
Japan / epidemiology
Middle Aged
Real-Time Polymerase Chain Reaction
Survival Rate
Reg. No./Substance:

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