© 2000 by Oxford University Press
Journal of the National Cancer Institute, Vol. 92, No. 5, 412-417,
March 1, 2000
© 2000 Oxford University Press
Population-Based, Case-Control Study of HER2 Genetic Polymorphism and Breast Cancer Risk
Affiliations of authors: D. Xie, Z. Deng, W. Zheng, Department of Epidemiology and Biostatistics, University of South Carolina School of Public Health and South Carolina Cancer Center, Columbia; X.-O. Shu, W.-Q. Wen, Department of Epidemiology and Biostatistics, University of South Carolina School of Public Health and South Carolina Cancer Center and Department of Pediatrics, University of South Carolina School of Medicine and South Carolina Cancer Center; K. E. Creek, Departments of Pediatrics and Pathology, University of South Carolina School of Medicine and South Carolina Cancer Center; Q. Dai, Department of Epidemiology and Biostatistics, University of South Carolina School of Public Health and South Carolina Cancer Center, and Department of Epidemiology, Shanghai Cancer Institute, People's Republic of China; Y.-T. Gao, F. Jin, Department of Epidemiology, Shanghai Cancer Institute.
Correspondence to: Wei Zheng, M.D., Ph.D., University of South Carolina, 15 Richland Medical Park, Suite 301, Columbia, SC 29203 (e-mail: wei.zheng{at} rmh.edu).
BACKGROUND: Alterations of the HER2 (also known as erbB-2 or neu)
proto-oncogene have been implicated in the carcinogenesis and prognosis of breast cancer. A
polymorphism at codon 655 (GTC/valine to ATC /isoleucine [Val655Ile]) in the transmembrane domain-coding region of this gene has been identified and may
be associated with the risk of breast cancer. We evaluated this hypothesis in a subgroup of
women who participated in a large-scale, population-based, case-control study of breast cancer in
Shanghai, China. METHODS: Genomic DNA from 339 patients with breast cancer and
361 healthy control subjects was examined for the Val655Ile polymorphism with a
polymerase chain reaction-restriction fragment-length polymorphism-based assay. All study
subjects completed a structured questionnaire during an in-person interview. All P
values are from two-sided tests. RESULTS: We found that 25.1% of the case
patients and 21.7% of the control subjects were heterozygous for the Val allele and
3.2% of the case patients and 0.3% of the control subjects were homozygous for
this allele (P = .005). Compared with women with the Ile/Ile genotype, women
who had the Ile/Val or Val/Val genotype had an elevated risk of breast cancer (odds ratio
[OR] = 1.4; 95% confidence interval [CI] =
1.0-2.0; P = .05) after adjustment for age, educational level, study period,
history of breast fibroadenoma, leisure physical activity, and age at first live birth. The risk was
elevated even more among women who were homozygous for the Val allele (OR = 14.1;
95% CI = 1.8-113.4). The association was more pronounced among younger
women (
45 years) than among older women (>45 years). The adjusted OR associated
with the Val allele was 1.7 (95% CI = 1.1-2.6) for younger women and 1.0
(95% CI = 0.5-1.9) for older women. CONCLUSIONS: Results of this study suggest
that polymorphisms of the HER2 gene may be important susceptibility biomarkers for breast
cancer risk, particularly among younger women.
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