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African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer
Authors:Ikuko Kato  Michelle Cichon  Cecilia L. Yee  Susan Land  Jeannette F. Korczak
Affiliation:1. Hormonal and Reproductive Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA;2. Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA;3. Walter Reed Army Institute of Research, Silver Spring, MD, USA;4. Yale School of Public Health, Yale University, New Haven, CT, USA;1. Ningxia Medical University, Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education/Key Laboratory of Reproduction and Genetics/Department of Medical Genetics and Cell Biology, Yinchuan 750004, PR China;2. Clinical Medicine Science, Peking University Health Science Center, Beijing 100191, PR China;3. Surgical Oncology of General Hospital of Ningxia Medical University, Yinchuan 750004, PR China.
Abstract:Background: African American women more often present with more aggressive types of breast cancer than Caucasian women, but little is known whether genetic polymorphisms specific to or disproportionate in African Americans are associated with their risk of breast cancer. Methods: A population-based case-control study was conducted including 194 cases identified through the Metropolitan Detroit Cancer Surveillance System and 189 controls recruited through random digit dialing to examine polymorphisms in genes involved in estrogen metabolism and action. Results: The African American-specific CYP1A1 5639C allele was associated with an increased risk of breast cancer (odds ratio (OR) = 2.34, 95% confidence interval (CI) 1.23–4.44) and this association with the CYP1A1 5639 locus was dependent on another polymorphism in the CYP3A4 gene (P = 0.043 for the interaction). In addition, African American-predominant CYP1B1 432 Val allele was significantly more often found in the cases than in the controls overall and the HSD17B1 312 Gly allele was specifically associated with premenopausal breast cancer risk (OR = 3.00, 95%CI 1.29–6.99). Conclusion: These observations need to be confirmed in larger studies due to the limited statistical power of the study based on a small number of cases.
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