Supportive Care in Cancer

, Volume 27, Issue 10, pp 3647–3656 | Cite as

Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature

  • Lucia Lombardi
  • Sonia M. Bramanti
  • Alessandra BaboreEmail author
  • Liborio Stuppia
  • Carmen Trumello
  • Ivana Antonucci
  • Alessandra Cavallo
Review Article



The primary aim of the present study was to conduct a systematic review of short-, intermediate- and long-term psychological effects, such as anxiety, depression and distress, on individuals undergoing genetic testing to determine BRCA1 and BRCA2 gene mutation. The different instruments used for the measurement of each construct were reported. In addition, risk and protective factors associated with psychological outcomes of genetic tests were explored.


Bibliographic databases were searched for studies published over the period 1998–2018. Using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method, 21 articles were selected for the current review.


Overall, the collected data revealed rather diverse results, although most studies reported higher levels of distress, anxiety and depression in carriers, as compared to non-carriers. The two genders were not equally represented, with men constituting only 6% of the sample. Risk factors and protective factors that may influence psychological outcomes and adjustment to genetic tests are highlighted and discussed in this review.


The increased risk of developing cancer associated with positive genetic testing results may be experienced as traumatic by many patients, although not all individuals with positive genetic testing results will experience increased distress. Hence, future studies should consider specific risk factors in order to select those who are more likely to be in need of psychological support. Finally, it is necessary to increase the number of male samples to better understand the male experience related to genetic testing outcomes.


BRCA1/2 mutation Genetic counselling Cancer risk Psychological distress Anxiety Depression Review 


Funding information

The authors did not receive any funding for any of the steps taken to write this review.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Psychological, Health and Territorial Sciences, School of Medicine and Health SciencesUniversity “G. d’Annunzio”ChietiItaly

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