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

Lombardi, Lucia; Bramanti, Sonia Monique; Babore, Alessandra; Stuppia, Liborio; Trumello, Carmen; Antonucci, Ivana; Cavallo, A

doi:10.1007/s00520-019-04918-7

Cited by 40 publications

(46 citation statements)

References 40 publications

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“…Health anxiety was also a significant predictor. The significance of cancer‐related health anxiety for BRCA1/2 carriers was highlighted in a recent review 29 and supports the finding that it contributes to general distress.…”

Section: Discussionsupporting

confidence: 54%

“…Clinically significant state anxiety (44%) and health anxiety (12%) rates are much higher than previous studies 3 . This may be due to several reasons: over one‐third of participants reported previous mental health difficulties, a quarter had received their BRCA1/2 confirmation in the past 12 months, and the majority were under 45 years of age, which are all factors associated with increased distress 29 . Over half the sample had an immediate family member who died from cancer, family cancer histories are a known factor for overestimating health risks 33 and can have negative psychological implications 34 .…”

Section: Discussionmentioning

confidence: 71%

“…Over one‐third of participants self‐reported having a previous mental health difficulty, which explained significant mental HRQOL variance. Prior high levels of anxiety and depression predict high levels of anxiety and depression after BRCA1/2 testing, regardless of the test result 29 . Previous mental health difficulty, health anxiety and illness perceptions (treatment control, consequences and illness concern) were significant predictors of mental HRQOL.…”

Section: Discussionmentioning

confidence: 91%

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Self‐concept and health anxiety relate to psychological outcomes for BRCA1/2 carriers

et al. 2020

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Objective: Leventhal's common sense model of self-regulation highlights how specific beliefs about illness influence psychological outcomes. Little is known on how such beliefs relate to BRCA1/2 adjustment. Furthermore, beliefs about one's self-concept may be relevant to genetic conditions and may relate to psychological wellbeing. Methods: One-hundred and eighteen female BRCA1/2 carriers from an Irish University Hospital completed questionnaires for this cross-sectional study. Outcomes measured were state anxiety and physical and mental health-related quality of life (HRQOL). Explanatory variables included sociodemographics, health anxiety, illness perceptions, coping and self-concept. Hierarchical multiple regression analyses were conducted. Results: Then, 44% of participants had clinically significant state anxiety and 12% had clinically significant health anxiety. Vulnerability, stigma, mastery and health anxiety explained 42% of the variance in state anxiety. Previous mental health difficulty, vulnerability, stigma, mastery and health anxiety explained 40% of the variance in mental HRQOL. Dysfunctional coping strategies were strongly related to the physical functioning aspect of quality of life. Conclusion: BRCA-specific beliefs related to self and health anxiety are important factors to consider in the adjustment to BRCA1/2 confirmation. K E Y W O R D S anxiety, BRCA1/2, common sense model, coping, genetic testing, oncology, psychological, psycho-oncology, quality of life, self-concept 1 | BACKGROUND Testing positive for BRCA1/2 gene mutations is associated with increased risk of breast and/or ovarian cancers: the average cumulative risk of breast and ovarian cancer by 80 years of age is 72% and 44% for BRCA1-mutation carriers and 69% and 17% for BRCA2-mutation carriers, respectively. 1 Health-related quality of life (HRQOL) and levels of anxiety are important measures of adjustment for BRCA1/2 carriers. 2 BRCA1/2 carriers often report that managing anxiety regarding the uncertainty of genetic confirmation is a primary concern: research reports that 14% of BRCA1/2 carriers had clinically significant anxiety 12 months after BRCA1/2 confirmation. 3 HRQOL encompasses the psychological and physical domains impacted by the increased risk of illness. 4 These domains have been found to be distinct but related concepts as measured by the SF-12. 5 BRCA1/2 carriers can experience distressing psychological and physical changes related to self-concept, body-image and adjustment difficulties. 6 Leventhal's common sense model (CSM) of self-regulation is used to understand responses to illness, and is supported by meta-analytic

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Section: Discussionsupporting

confidence: 54%

Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 91%

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Self‐concept and health anxiety relate to psychological outcomes for BRCA1/2 carriers

et al. 2020

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“…Nevertheless, most mutation carriers were very satis ed with the decision of undergoing genetic testing. Another limiting factor in our analysis was that men and women were included in the study population, however, middle-aged women were overrepresented, equivalent to previous studies on genetic testing (39,43). This could also have led to a potential underrepresentation of gender-based aspects.…”

Section: Discussionmentioning

confidence: 95%

Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

Blomen

Pott

Volk

et al. 2021

Preprint

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Background: 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. This study analyzed the psychological impact of genetic testing and mutation-positive test result as well as associated family communication processes from the perspective of BRCA1 or BRCA2 mutation carriers and their family members.Methods: We conducted a two-phase study with explanatory sequential mixed methods design to understand the perspective of psychological process regarding genetic testing more efficiently. First, we analyzed a survey data of 79 carriers of a BRCA1 or BRCA2 mutation. Second, we conducted focus group interviews of 10 family members to deepen understanding of communication processes in high-risk families.Results: The average age of the BRCA1 or BRCA2 mutation carriers was 48 years, 58% had a history of cancer. The majority (64.6%) had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. The main motives for undergoing genetic testing were desire for safety, prevention and risk assessment for the own children. The mutation carriers were satisfied with the decision to undergo genetic testing. Contrary to their subjective perception, the respondents' knowledge about those mutations was moderate. The familial communication was merely partially successful. In contrast to the high rate of disclosure to at-risk relatives (100%), the reported uptake of genetic testing among informed at-risk relatives was low (45.6%). In-depth focus group interviews with 10 family members revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and the own cancer risk, particulary among males.Conclusion: The detection of a BRCA1 or BRCA2 mutation has psychological impact not only on mutation carriers but also on their family members. An adequate knowledge of the genetic background is required to reduce the level of psychological distress and to support the familial communication process. Therefore, the quality of information sources for affected individuals and relatives and also the awareness of health care professionals have to be improved.

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“…Other women, however, report fear of developing cancer at a young age and passing the deleterious mutation on to their own children [ 6 , 7 ]. Recent systematic reviews mirror these heterogeneous results, with some studies indicating that carriers report higher distress than non-carriers [ 8 , 9 , 10 ], while others reveal reduced distress as a result of genetic counseling [ 9 ]. Consequently, there are BRCA1/2 mutation carriers who display persistent heightened distress [ 11 ] and a “psychological response similar to the diagnosis of breast cancer itself” [ 12 ] (p. 588).…”

Section: Introductionmentioning

confidence: 99%

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

Brand

Speiser

Besch

et al. 2021

Genes

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Little is known about how women with a BRCA1/2 mutation develop an individual understanding of their breast and ovarian cancer risk and how this affects their psychological distress. In this study, we investigated associations between illness representations, coping strategies and psychological distress. N = 101 BRCA1/2 mutation carriers answered self-report questionnaires on illness representations, coping strategies, cancer worry and depressive symptoms. Women without cancer were compared to women with a previous cancer diagnosis. Illness representations explained 50% and 45% of the variability in cancer worry and depressive symptoms, respectively. Woman perceiving severe consequences (β = 0.29, p < 0.01) and having more concerns (β = 0.37, p < 0.01) were found to report more cancer worry. Perceiving information about the mutation as less coherent (β = −0.17, p < 0.05) and experiencing negative emotional responses (β = 0.60, p < 0.01) were both associated with more depressive symptoms. Women with a previous cancer diagnosis show patterns of illness representations that are potentially more distressing than women without a cancer diagnosis. Findings suggest that physicians involved in counseling should pay attention to illness representations of distressed women. Thereby, it would be possible to detect maladaptive thoughts associated with the mutation, address negative emotions and encourage adaptive coping strategies.

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

Cited by 40 publications

References 40 publications

Self‐concept and health anxiety relate to psychological outcomes for BRCA1/2 carriers

Self‐concept and health anxiety relate to psychological outcomes for BRCA1/2 carriers

Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

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

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