Making Sense of a Health Threat: Illness Representations, Coping, and Psychological Distress among BRCA1/2 Mutation Carriers

Brand, Hannah; Speiser, Dorothee; Besch, L.; Roseman, Julia; Kendel, Friederike

doi:10.3390/genes12050741

Cited by 10 publications

(12 citation statements)

References 37 publications

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“…These findings demonstrate that the detection of a mutation can cause cancer fear and lead to psychological distress. However, it should be emphasized that study results dealing with the psychological impact of genetic testing are heterogenous 4 , 6 , and that other research showed no significant decrease in psychological well-being due to the detection of a pathogenic mutation, especially considering the intermediate- and long-term outcome after test disclosure.…”

Section: Discussionmentioning

confidence: 91%

“…In addition to medical consequences, the detection of a mutation in a cancer predisposing gene also has psychosocial impact. It can be perceived as a psychological burden by some mutation carriers 4 – 6 , not only resulting from uncertainties and fears concerning the own future prospects, but also from the responsibility to inform relatives about their individual risk to carry the same mutation and its associated cancer risks. In order to advise family members, a mutation carrier has to understand the test result and its clinical consequences.…”

Section: Introductionmentioning

confidence: 99%

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Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Blomen

Pott

Volk

et al. 2021

Sci Rep

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The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. A two-phase study with explanatory sequential mixed methods design examined the psychological impact of genetic testing and associated family communication processes. Analyzing a survey data of 79 carriers of a BRCA1 or BRCA2 mutation, the majority had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. Contrary to their subjective perception, the respondents’ knowledge about those mutations was moderate. Despite the high rate of information transfer to relatives at risk (100%), their reported uptake of genetic testing was low (45.6%). Communication about the mutation detection was more frequent with female than with male relatives. In-depth focus group interviews revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and about the own cancer risk, particularly among males. This study suggests that an adequate knowledge of the genetic background and psychological support is required to reduce emotional distress, to support familial communication and to facilitate genetic testing.

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Section: Discussionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Blomen

Pott

Volk

et al. 2021

Sci Rep

View full text Add to dashboard Cite

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“…Thirteen studies measured cancer worry utilizing different versions of the CWS [ 37 , 38 , 44 , 48 , 56 , 57 , 62 , 73 , 75 , 76 , 78 , 79 , 81 ]. There was high heterogeneity in the versions used, with one study using a single-item version [ 76 ], two studies using a three-item version [ 37 , 56 ], five studies using a four-item version [ 38 , 44 , 73 , 75 , 79 ], two studies using a five-item version [ 62 , 78 ], and two studies using a revised six-item version [ 48 , 81 ]. One study did not specify which version was used [ 57 ].…”

Section: Resultsmentioning

confidence: 99%

“…Three studies identified no difference in cancer worry in carriers when compared to non-carriers from high-risk families [ 48 , 73 , 78 ]. In contrast, eight studies identified increased cancer worry, each with unique comparators [ 37 , 38 , 44 , 62 , 75 , 76 , 79 , 81 ]. Three studies compared carriers with non-carriers from high-risk families and found higher cancer worry in those with pathogenic variants for up to one year after genetic test result disclosure [ 44 , 79 , 81 ].…”

Section: Resultsmentioning

confidence: 99%

Assessing Psychological Morbidity in Cancer-Unaffected BRCA1/2 Pathogenic Variant Carriers: A Systematic Review

et al. 2023

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Female BRCA1/2 pathogenic variant carriers have an increased lifetime risk for breast and ovarian cancer. Cancer-unaffected women who are newly diagnosed with this pathogenic variant may experience psychological distress because of imminent health threat. No comprehensible review on psychological morbidity in cancer-unaffected BRCA1/2 pathogenic variant carriers is currently available. This review aims to give an overview about all available the studies in which psychological outcomes have been assessed in cancer-unaffected BRCA1/2 pathogenic variant carriers, whether as a primary outcome or secondary measurement. A systematic search across four databases (Web of Science, PubMed, ScienceDirect, and EBSCO) was conducted. Studies had to report on cancer-unaffected pathogenic variant carriers (exclusively or separately) and use a validated measure of psychological morbidity to be eligible. Measures were only included if they were used in at least three studies. The final review consisted of 45 studies from 13 countries. Distress measures, including anxiety and cancer worry, were most often assessed. Most studies found a peak of distress immediately after genetic test result disclosure, with a subsequent decline over the following months. Only some studies found elevated distress in carriers compared to non-carriers in longer follow-ups. Depression was frequently investigated but largely not found to be of clinical significance. Quality of life seemed to be largely unaffected by a positive genetic test result, although there was some evidence that younger women, especially, were less satisfied with their role functioning in life. Body image has been infrequently assessed so far, but the evidence suggested that there may be a decrease in body image after genetic test result disclosure that may decrease further for women who opt for a prophylactic mastectomy. Across all the outcomes, various versions of instruments were used, often limiting the comparability among the studies. Hence, future research should consider using frequently used instruments, as outlined by this review. Finally, while many studies included cancer-unaffected carriers, they were often not reported on separately, which made it difficult to draw specific conclusions about this population.

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“…Ethical approval was obtained from Charité—Universitätsmedizin Berlin (EA1/222/15). The study is described in more detail elsewhere [ 16 , 17 ].…”

Section: Methodsmentioning

confidence: 99%

What Causes Cancer in Women with a gBRCA Pathogenic Variant? Counselees’ Causal Attributions and Associations with Perceived Control

Kendel

Klein

Schüürhuis

et al. 2022

Genes

Self Cite

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Laypersons have a strong need to explain critical life events, such as the development of an illness. Expert explanations do not always match the beliefs of patients. We therefore assessed causal attributions made by women with a pathogenic germline variant in BRCA1/2 (gBRCA1/2-PV), both with and without a cancer diagnosis. We assumed that attributions would be associated with the control experience. We conducted a cross-sectional study of N = 101 women with a gBRCA1/2-PV (mean age 43.3 ± 10.9). Women answered self-report questionnaires on perceived causes and control. Most women (97%) named genes as a causal factor for the development of cancer. Surprisingly, the majority of women also named stress and health behavior (both 81%), environment (80%), and personality (61%). Women with a cancer diagnosis tended to endorse more causes. The attributions to personality (ρ = 0.39, p < 0.01) health behavior (p = 0.44, p < 0.01), and environment (ρ = 0.22, p < 0.05) were significantly associated with personal control, whereas attribution to genes showed a small, albeit significant association with treatment control (ρ = 0.20, p < 0.05). Discussing causal beliefs in clinical counseling may provide a “window of opportunity” in which risk factors and health behaviors could be better addressed and individually targeted.

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Making Sense of a Health Threat: Illness Representations, Coping, and Psychological Distress among BRCA1/2 Mutation Carriers

Cited by 10 publications

References 37 publications

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Assessing Psychological Morbidity in Cancer-Unaffected BRCA1/2 Pathogenic Variant Carriers: A Systematic Review

What Causes Cancer in Women with a gBRCA Pathogenic Variant? Counselees’ Causal Attributions and Associations with Perceived Control

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