title: Period3 structural variation: a circadian biomarker associated with breast cancer in young women.
abstract: Circadian disruption has been indicated as a risk factor for breast cancer in recent epidemiologic studies. A novel finding in circadian biology is that genes responsible for circadian rhythm also regulate many other biological pathways, including cell proliferation, cell cycle regulation, and apoptosis. Therefore, mutations in circadian genes could conceivably result in deregulation of these processes and contribute to tumor development, and be markers for susceptibility to human cancer. In this study, we investigated the association between an exonic length variation in a circadian gene, Period3 (Per3), and breast cancer risk using blood samples collected from a recently completed breast cancer case-control study in Connecticut. There were 389 Caucasian cases and 432 Caucasian controls included in our analysis. We found that the variant Per3 genotype (heterozygous + homozygous 5-repeat alleles) was associated with an increased risk of breast cancer among premenopausal women (odds ratio, 1.7; 95% confidence interval, 1.0-3.0). Our finding suggests that the circadian genes might be a novel panel of potential biomarkers for breast cancer and worth further investigation.
authors.affiliation: Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06520, USA. yong.zhu@yale.edu
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhu
authors.forename: Heather N
authors.initials: HN
authors.lastname: Brown
authors.forename: Yawei
authors.initials: Y
authors.lastname: Zhang
authors.forename: Richard G
authors.initials: RG
authors.lastname: Stevens
authors.forename: Tongzhang
authors.initials: T
authors.lastname: Zheng
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D016022:Case-Control Studies; D002940:Circadian Rhythm / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007407:Interviews as Topic; D016015:Logistic Models; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D056950:Period Circadian Proteins; D012307:Risk Factors; D014157:Transcription Factors
chemical_list: D009687:Nuclear Proteins; C512644:PER3 protein, human; D056950:Period Circadian Proteins; D014157:Transcription Factors