Journal of Genetic Counseling

, Volume 25, Issue 5, pp 880–891 | Cite as

Psychological Distress, Anxiety, and Depression of Cancer-Affected BRCA1/2 Mutation Carriers: a Systematic Review

  • Johanna RingwaldEmail author
  • Christina Wochnowski
  • Kristin Bosse
  • Katrin Elisabeth Giel
  • Norbert Schäffeler
  • Stephan Zipfel
  • Martin Teufel
Review Paper


Understanding the intermediate- and long-term psychological consequences of genetic testing for cancer patients has led to encouraging research, but a clear consensus of the psychosocial impact and clinical routine for cancer-affected BRCA1 and BRCA2 mutation carriers is still missing. We performed a systematic review of intermediate- and long-term studies investigating the psychological impact like psychological distress, anxiety, and depression in cancer-affected BRCA mutation carriers compared to unaffected mutation carriers. This review included the screening of 1243 studies. Eight intermediate- and long-term studies focusing on distress, anxiety, and depression symptoms among cancer-affected mutation carriers at least six months after the disclosure of genetic testing results were included. Studies reported a great variety of designs, methods, and patient outcomes. We found evidence indicating that cancer-affected mutation carriers experienced a negative effect in relation to psychological well-being in terms of an increase in symptoms of distress, anxiety, and depression in the first months after test disclosure. In the intermediate- and long-term, no significant clinical relevant symptoms occurred. However, none of the included studies used specific measurements, which can clearly identify psychological burdens of cancer-affected mutation carriers. We concluded that current well-implemented distress screening instruments are not sufficient for precisely identifying the psychological burden of genetic testing. Therefore, future studies should implement coping strategies, specific personality structures, the impact of genetic testing, supportive care needs and disease management behaviour to clearly screen for the possible intermediate- and long-term psychological impact of a positive test disclosure.


Brca mutation Hereditary cancer Psychological burden Distress Depression Anxiety Review 



We gratefully thank Adrien Chambellan for supporting with English editing.

Compliance with Ethical Standards


KEG receives a grant from the Ministry of Science Baden-Wuerttemberg and the European Social Fund and is partly supported by the Athene programme, a project of the Excellence Initiative of the German federal and state governments.

Conflict of Interest

The authors of the article declare that they have no conflict of interest.

Human and Animal Rights

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed Consent

This article is a review of the literature and does not contain any studies with human participants. Therefore, an informed consent was not necessary.


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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Johanna Ringwald
    • 1
    • 2
    Email author
  • Christina Wochnowski
    • 1
  • Kristin Bosse
    • 3
    • 4
  • Katrin Elisabeth Giel
    • 1
  • Norbert Schäffeler
    • 1
    • 2
  • Stephan Zipfel
    • 1
    • 2
  • Martin Teufel
    • 1
    • 2
  1. 1.Department of Psychosomatic Medicine and Psychotherapy, Internal Medicine VIUniversity Hospital TuebingenTuebingenGermany
  2. 2.Comprehensive Cancer CenterUniversity Hospital TuebingenTuebingenGermany
  3. 3.Institute of Medical Genetics and Applied GenomicsUniversity Hospital TuebingenTuebingenGermany
  4. 4.Department of Obstetrics and GynecologyUniversity Hospital TuebingenTuebingenGermany

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