Psychological Distress, Anxiety, and Depression of Cancer‐Affected BRCA1/2 Mutation Carriers: a Systematic Review
Open accessAbstract
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.
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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 [18]
The Distress section (page unavailable) reports higher distress in mutation carriers than non-carriers during the first six months after testing. The Anxiety and Depression section (page unavailable) reports higher scores in some studies, but the findings are inconsistent; the review does not establish that carriers generally have higher levels of all three outcomes than non-carriers. Its focus is also cancer-affected carriers, rather than all BRCA1/2 carriers. (LLM, conf=0.88)
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CÂNCER COLORRETAL ASSOCIADO À VARIANTE PATOGÊNICA NO GENE MSH2 - ACONSELHAMENTO GENÉTICO
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CÂNCER DE OVÁRIO ASSOCIADO À MUTAÇÃO DO GENE BRCA1: RELATO DE CASO
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CÂNCER DE MAMA E ACONSELHAMENTO GENÉTICO ASSOCIADO A UM RELATO DE CASO
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MUTAÇÃO NO GENE BRCA2 E CHANCES DE DESENVOLVER CÂNCER DE MAMA PELA HISTÓRIA FAMILIAR
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- Authors
- Ringwald, J., Wochnowski, C., Bosse, K., Giel, K. E., Schäffeler, N., Zipfel, S., & Teufel, M.
- Affiliations
- Universitätsklinikum Tübingen (DE)
- Corresponding author
- Ringwald, Johanna
- Venue
- Journal of Genetic Counseling
- Publisher
- Wiley
- Published
- 2016-04-14
- Volume
- 25
- Issue
- 5
- Pages
- 880-891
- ISSN
- 1059-7700 (ISSN-L)
- 1573-3599
- OpenAlex
- W2340539776
- Cited by
- 114
- References
- 59
- Citations by year
- 2026: 10 · 2025: 14 · 2024: 7 · 2023: 20 · 2022: 15 · 2021: 12 · 2020: 11 · 2019: 8 · 2018: 10 · 2017: 4 · 2016: 3
- FWCI
- 1.11
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Genetic Counseling (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Athene programme, Ministry of Science Baden-Wuerttemberg and the European Social Fund
- 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 mutation carriers, BRCA2 mutation carriers, psychological distress, anxiety, depression, cancer patients, psychosocial impact, long-term mental health outcomes, coping strategies, supportive care needs
- MeSH terms
- Adolescent, Adult, Aged, Aged, 80 and over, Anxiety, Depression, Female, Genetic Testing, Humans, Longitudinal Studies, Male, Middle Aged, Mutation, Neoplasms, Stress, Psychological, BRCA1 Protein, BRCA2 Protein, Young Adult
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