Sleep disturbances in asymptomatic BRCA1/2 mutation carriers: Women at high risk for breast-ovarian cancer

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This study investigated the association between positive genetic diagnosis for BRCA1/2 mutations and sleep quality in Ashkenazi asymptomatic women. Seventy-three women, including 17 asymptomatic BRCA1/2 carriers and 20 non-carriers from the oncogenetic clinic, and 36 community controls, participated in a cross-sectional design. Women completed sociodemographic, clinical, general psychological distress, cancer-related worry (CRW), fatigue and sleep questionnaires in their homes, and wore actigraphs for 5-7 nights. Impaired global subjective sleep quality was demonstrated in BRCA1/2 carriers compared to non-carriers and controls [mean Pittsburgh sleep quality index (PSQI) total scores 7.29 ± 4.34; 3.94 ± 2.49; 4.21 ± 2.80, respectively, P = 0.021] and poor sleep quality (PSQI total score >5) was significantly higher in carriers (53%) compared to non-carriers (20%) and controls (28%, P = 0.03). Based on actigraphic measures, sleep latency tended to be longer in carriers compared to counterparts, albeit not significantly. Increased sleep disturbance was related significantly to increased fatigue in the entire sample and in the control group; to psychological distress in the entire sample and in non-carriers; and to CRW in the entire sample. In carriers, sleep disturbance was related strongly but non-significantly to fatigue, psychological distress and CRW. Fatigue and carrier status were significant predictors of sleep quality, accounting for 15.7% of the variance. In conclusion, asymptomatic BRCA1/2 carriers experience poor sleep quality compared to non-carriers and controls. Our study design is unique in that it offers insight regarding the nature of being an asymptomatic carrier, and affords the opportunity to examine factors that may contribute to the development of insomnia in women at risk for breast-ovarian cancer.

Original languageEnglish
Pages (from-to)333-340
Number of pages8
JournalJournal of Sleep Research
Issue number2
StatePublished - Jun 2010


  • Asymptomatic mutation carriers
  • BRCA1/2
  • Hereditary breast-ovarian cancer
  • Insomnia
  • Sleep quality

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Behavioral Neuroscience


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