J Genet Med.  2010 Jun;7(1):67-77.

Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Family

  • 1Department of Surgery, Seoul National University, Bundang Hospital, Kyunggi-do, Korea. BRCAkorea@gmail.com
  • 2Department of Psychiatry, Seoul National University, Bundang Hospital, Kyunggi-do, Korea.
  • 3Mental Health and Behavioral Medicine services for Clinical Departments, Seoul National University, Bundang Hospital, Kyunggi-do, Korea.
  • 4Department of Rehabilitation Medicine, Seoul National University, Bundang Hospital, Kyunggi-do, Korea.
  • 5Cancer research institute, Seoul National University College of Medicine, Seoul, Korea.


The aims of this study are to evaluate psychological impact and quality of life according to the cancer diagnosis and mutation status in Korean families with BRCA mutations.
Seventeen affected carriers (AC), 16 unaffected carriers (UC) and 13 healthy non carriers (NC) from 13 BRCA mutation families were included in the study. Outcomes were compared with regard to depression (Beck Depression Inventory), anxiety (State-Trait Anxiety Inventory, STAI), optimism (Reevaluation of the Life Orientation test, LOT-R), knowledge of hereditary ovarian cancer, and quality of life (QoL) (SF-36v2 Health Survey, physical component score [PCS], mental component score [MCS]) among three groups. RESULT: Level of depression, optimism, and PCS were similar in AC, UC, and NC. Anxiety score was elevated in all three groups. MCS was significantly low in AC than in UC and NC (P =0.009, P =0.017). Knowledge of hereditary breast and ovarian cancer was high in AC than NC (P =0.001). MCS was significantly related to whether patient was affected by cancer (P =0.043) and has occupation (P = 0.008) or not in multivariable analysis.
From this cross sectional study, psychological adverse effect was not related to the carrier status of BRCA mutation. Elevated anxiety in BRCA family members was observed but, independent to affection and the type of genetic mutation. AC showed low mental QoL. Further effort to understand psychological impact and QoL of genetic testing in BRCA family members is required for follow-up in clinical aspects.


BRCA mutation; Genetic counseling; Psychology; Quality of life
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