Quality of life in asymptomatic BRCA1/2 mutation carriers.

摘要

OBJECTIVE: To investigate the association between positive genetic diagnosis for BRCA1/2 mutations and Health-Related Quality of Life (HR-QOL) in Ashkenazi asymptomatic women. METHODS: Socio-demographic, clinical, psychological and HR-QOL questionnaires were completed by 73 women, including 17 asymptomatic BRCA1/2 carriers and 20 non-carriers from the oncogenetic clinic at Rambam Health Care Campus in Israel; and 36 low-risk controls from the community, between January 2006 to November 2007. RESULTS: Impaired HR-QOL was demonstrated in BRCA1/2 carriers compared to non-carriers and controls in the role limitation due to emotional problems subscale. When stratified by women free of menopausal symptoms and controlling for education level, this subscale remained significant, and likewise both physical functioning and overall HR-QOL scores were significantly lower in BRCA1/2 carriers. CONCLUSIONS: Our results suggest that BRCA1/2 carriers are prone to experience deficits in HR-QOL, especially in mental aspects affecting role functioning.