BCL-2 (-938C > A) polymorphism is associated with breast cancer susceptibility
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- 作者：Ning Zhang (1)
Xiaoyan Li (1)
Kai Tao (1)
Liyu Jiang (1)
Tingting Ma (1)
Shi Yan (2)
Cunzhong Yuan (2)
Meena S Moran (3)
Faming Liang (4)
Bruce G Haffty (5)
Qifeng Yang (1) - 刊名：BMC Medical Genetics
- 出版年：2011
- 出版时间：December 2011
- 年：2011
- 卷：12
- 期：1
- 全文大小：764KB
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35. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/12/48/prepub - 作者单位：Ning Zhang (1)
Xiaoyan Li (1)
Kai Tao (1)
Liyu Jiang (1)
Tingting Ma (1)
Shi Yan (2)
Cunzhong Yuan (2)
Meena S Moran (3)
Faming Liang (4)
Bruce G Haffty (5)
Qifeng Yang (1)
1. Department of Breast Surgery, Qilu Hospital, Shandong University, School of Medicine, Ji鈥檔an, PR, China
2. Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, School of Medicine, Ji鈥檔an, PR, China
3. Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, USA
4. Department of Statistics, Texas A&M University, College Station, USA
5. Department of Radiation Oncology, UMDNJ-Robert Wood Johnson School of Medicine, Cancer Institute of New Jersey, New Brunswick, USA - ISSN：1471-2350
文摘
Background BCL-2 (B-cell leukemia/lymphoma 2) gene has been demonstrated to be associated with breast cancer development and a single nucleotide polymorphism (SNP; -938C > A) has been identified recently. To investigate whether this polymorphism functions as a modifier of breast cancer development, we analyzed the distribution of genotype frequency, as well as the association of genotype with clinicopathological characteristics. Furthermore, we also studied the effects of this SNP on Bcl-2 expression in vitro. Methods We genotyped the BCL-2 (-938C > A) in 114 patients and 107 controls, and analyzed the estrogen receptor (ER), progestogen receptor (PR), C-erbB2 and Ki67 status with immunohistochemistry (IHC). Different Bcl-2 protein levels in breast cancer cell lines were determined using western blot. Logistic regression model was applied in statistical analysis. Results We found that homozygous AA genotype was associated with an increased risk (AA vs AC+CC) by 2.37-fold for breast cancer development and significant association was observed between nodal status and different genotypes of BCL-2 (-938C > A) (p = 0.014). AA genotype was more likely to develop into lobular breast cancer (p = 0.036). The result of western blot analysis indicated that allele A was associated with the lower level of Bcl-2 expression in breast cancer cell lines. Conclusions AA genotype of BCL-2 (-938C > A) is associated with susceptibility of breast cancer, and this genotype is only associated with the nodal status and pathological diagnosis of breast cancer. The polymorphism has an effect on Bcl-2 expression but needs further investigation.