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Carcinogenesis Advance Access originally published online on April 15, 2008
Carcinogenesis 2008 29(6):1197-1201; doi:10.1093/carcin/bgn099
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

A tandem repeat of human telomerase reverse transcriptase (hTERT) and risk of breast cancer development and metastasis in Chinese women

Yan Wang1,2,3, Zhibin Hu2,3, Jie Liang2,3, Zhanwei Wang2,3, Jinhai Tang4, Shui Wang5, Xuechen Wang6, Jianwei Qin4, Xinru Wang1,2 and Hongbing Shen1,2,3,*

1 Laboratory of Reproductive Medicine
2 Department of Epidemiology and Biostatistics
3 Cancer Research Center, Nanjing Medical University, Nanjing 210029, China
4 Department of General Surgery, Jiangsu Cancer Hospital, Nanjing, 210009, China
5 Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
6 Department of General Surgery, Nanjing Gulou Hospital, Nanjing 210008, China

* To whom correspondence should be addressed. Tel/Fax: +86 25 868 62756; Email: hbshen{at}njmu.edu.cn

Telomerase reactivation, which prevents telomere shortening and maintains cell viability, is crucial for the continued growth or progression of cancer cells. A minisatellite tandem repeat, MNS16A, located in the downstream of the human telomerase reverse transcriptase (hTERT) gene was recently identified and reported to have an effect on hTERT expression and telomerase activity. The aim of this study was to test the hypothesis that the MNS16A variant is associated with risk of breast cancer development and metastasis. We genotyped MNS16A variant in hTERT in a case–control study of 1029 histologically confirmed breast cancer patients and 1107 cancer-free controls in Chinese women. The variant genotypes (302/271, 302/243 and 243/243) of MNS16A were associated with a significantly increased risk of breast cancer [adjusted odds ratio (OR) = 1.50, 95% confidence interval (CI) = 1.15–1.96], compared with the wild-type 302/302 genotype. In stratified analyses, we found that the 302/271 genotype was associated with a significantly increased risk of axillary lymph nodes metastasis (adjusted OR = 2.13, 95% CI = 1.05–4.33) compared with wild-type 302/302 genotype. These findings indicate that the MNS16A variant in the hTERT gene may contribute to the risk of breast cancer development and metastasis in Chinese women.

Abbreviations: ALNM, axillary lymph node metastasis; CI, confidence interval; ER, estrogen receptor; hTERT, human telomerase reverse transcriptase; OR, odds ratio; PCR, polymerase chain reaction; PR, progesterone receptor

Received February 22, 2008; revised March 30, 2008; accepted April 2, 2008.


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