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Updated: Jul 15, 2026

In Vitro Bioluminescence Assay to Characterize Circadian Rhythm in Mammary Epithelial Cells
Published on: September 28, 2017
Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk
Yong Zhu1, Richard G Stevens, Derek Leaderer
1Department of Epidemiology and Public Health, Yale University School of Medicine, LEPH Room 702, New Haven, CT 06520, USA. yong.zhu@yale.edu
Abstract:
Three known non-synonymous polymorphisms (Ala394Thr, Ser471Leu and Pro690Ala) in the largest circadian gene, Neuronal PAS domain protein 2 (NPAS2), were genotyped in a breast cancer case-control study conducted in Connecticut, USA (431 cases and 476 controls). We found that women with the heterozygous Ala394Thr genotype were significantly associated with breast cancer risk compared to those with the common homozygous Ala394Ala (OR = 0.61, 0.46-0.81, P = 0.001). This is the first evidence demonstrating a role of the circadian gene NPAS2 in human breast cancer, suggesting that genetic variations in circadian genes might be a novel panel of biomarkers for breast cancer risk.
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