Psychological aspects, risk and protective factors related to BRCA genetic testing: a review of the literature
Abstract
Purpose 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.Methods 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.Results 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.Conclusions 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.
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BRCA1/2 mutation carriers are particularly likely to experience higher levels of distress, anxiety, and depression compared to non-carriers following the announcement of the genetic test result.
“two systematic reviews found higher levels of distress, anxiety, and depression in carriers compared to non-carriers following the announcement of the genetic test result [17, 18].”
From Fear of cancer recurrence in breast cancer survivors carrying a BRCA1 or 2 genetic mutation : a cross-sectional study (2024) · cites this paper as [17]
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CÂNCER GÁSTRICO DIFUSO HEREDITÁRIO: UM RELATO DE CASO SOB PERSPECTIVA GENÉTICA DO CDH1
Rangel, R. P. P., Nóbrega, Y. C., Silveira, L. V. D. S., Mendonça, L. C., Daleprane, V. E., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.8842305125
CÂNCER COLORRETAL ASSOCIADO À VARIANTE PATOGÊNICA NO GENE MSH2 - ACONSELHAMENTO GENÉTICO
Zava, E., Costa, A., Silveira, L. V. D. S., Pereira, L. S. D. J., Caetano, S. S. S., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.8842305122
CÂNCER DE OVÁRIO ASSOCIADO À MUTAÇÃO DO GENE BRCA1: RELATO DE CASO
Bourguignon, J. H. B., Faria, A. L. R., Silveira, L. V. D. S., Santana, E. S., Pereira, G. C. M., Uchiya, T. D. S., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.88423051210
CÂNCER DE MAMA E ACONSELHAMENTO GENÉTICO ASSOCIADO A UM RELATO DE CASO
Leppaus, K. F., Machado, J. D. O., Silveira, L. V. D. S., Silva, L. S. A., Uchiya, T. D. S., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.88423051211
MUTAÇÃO NO GENE BRCA2 E CHANCES DE DESENVOLVER CÂNCER DE MAMA PELA HISTÓRIA FAMILIAR
dos Santos, D. S., Queiroz, J. G., Silveira, L. V. D. S., de Jesus, A. F., Uchiya, T. D. S., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.8842305128
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UMA ABORDAGEM INTEGRADA DA SÍNDROME DO CÂNCER DE MAMA E OVÁRIO HEREDITÁRIOS
da Paixão, J. P. D. S., de Souza, M. L., Silveira, L. V. D. S., Daleprane, V. E., Uchiya, T. D. S., Casotti, M. C., Meira, D. D., & Louro, I. D. (2023) · doi:10.22533/at.ed.8842305129
CÂNCER DE OVÁRIO, BRCA1 E ACONSELHAMENTO GENÉTICO: CONDUTAS EM UM CASO CLÍNICO
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Bioinformática aplicada à Oncogenética: uma nova ferramenta para casos complexos - Volume I
Casotti, M. C., Louro, L. S., Santana, G. M., Louro, T. E. S., Caetano, S. S. S., Daleprane, V. E., Uchiya, T. D. S., Paula, F., de Carvalho, E. F., Louro, I. D., et al. (2023) · doi:10.22533/at.ed.884230512
Skrovanek, E., Bender, C. M., Dunbar‐Jacob, J. M., Mai, P. L., Sereika, S. M., & Wesmiller, S. W. (2025) · Oncology nursing forum · doi:10.1188/25.onf.302-312
Gris, A. V., Giacobini, E., Tricomi, V., Rumi, F., Valentini, I., Cristiano, A., Testa, S., Rosano, A., Pezzullo, A. M., & Boccia, S. (2026) · medRxiv · doi:10.64898/2026.04.13.26350758
- Authors
- Lombardi, L., Bramanti, S. M., Babore, A., Stuppia, L., Trumello, C., Antonucci, I., & Cavallo, A.
- Affiliations
- University of Chieti-Pescara (IT)
- Corresponding author
- Babore, Alessandra
- ORCID
- Venue
- Supportive Care in Cancer
- Published
- 2019-06-15
- Volume
- 27
- Issue
- 10
- Pages
- 3647-3656
- ISSN
- 0941-4355 (ISSN-L)
- 1433-7339
- OpenAlex
- W2950841310
- Cited by
- 56
- References
- 49
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 8 · 2023: 20 · 2022: 11 · 2021: 10 · 2020: 2
- FWCI
- 0.76
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Supportive Care in Cancer (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Oncology › Cancer survivorship and care
- Social Sciences › Sociology and Political Science › Family Support in Illness
- Keywords
- BRCA1, BRCA2, genetic testing, psychological distress, anxiety, depression, risk factors, protective factors, genetic carriers, psychological support
- MeSH terms
- Adult, Anxiety, Breast Neoplasms, Depression, Female, Genetic Counseling, Genetic Testing, Humans, Male, Mutation, Risk Factors, Stress, Psychological, BRCA1 Protein, BRCA2 Protein, Protective Factors
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