4.5 Article

Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk

Journal

BREAST CANCER RESEARCH AND TREATMENT
Volume 107, Issue 3, Pages 421-425

Publisher

SPRINGER
DOI: 10.1007/s10549-007-9565-0

Keywords

circadian gene; NPAS2; breast cancer

Categories

Funding

  1. NCI NIH HHS [R01 CA122676-01A1, R03 CA108369, R03 CA108369-01, R01 CA122676-02, R01 CA122676, CA110937, CA122676, R03 CA110937-01, R03 CA110937, R03 CA108369-02, CA108369, CA62986, R03 CA110937-02] Funding Source: Medline
  2. NIEHS NIH HHS [ES11659, R21 ES011659, R21 ES011659-01] Funding Source: Medline

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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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