The psychological impact of breast and ovarian cancer preventive options in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers

Borreani, Claudia; Manoukian, Siranoush; Bianchi, Elisabetta; Brunelli, Cinzia; Peissel, Bernard; Caruso, Anita; Morasso, Gabriella; Pierotti, Marco A.

doi:10.1111/cge.12298

Cited by 35 publications

(53 citation statements)

References 46 publications

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“…And yet, despite the knowledge of carrier status, mutation carriers often still suffer significantly as a result of the uncertainty over whether they might develop the disease, and if so, when PAH symptoms will manifest. Thus, the results of genetic testing may have profound psychological consequences, such as fear, anxiety (unpublished data) and guilt, similar to what has been reported in other diseases [50][51][52][53].…”

Section: Counselling For Asymptomatic Relativessupporting

confidence: 67%

Heritable pulmonary hypertension: from bench to bedside

et al. 2017

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Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown penetrance.In France, the national pulmonary hypertension referral centre offers genetic counselling and testing to adults and children. Predictive testing is also proposed to adult relatives at risk of carrying a predisposing mutation. In that context, we offer all asymptomatic BMPR2 mutation carriers a programme to detect pulmonary arterial hypertension at an early phase, as recommended by the

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Section: Counselling For Asymptomatic Relativessupporting

confidence: 67%

Heritable pulmonary hypertension: from bench to bedside

et al. 2017

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“…Ovarian cancer worry and the desire to reduce this worry have both been shown to be associated with intention to undergo RRSO [11, 26, 34]. In our study, women undergoing RRSO were more likely to be mutation carriers, reported higher perceived OC risk, were more certain about their estimated OC risk, and were more frequently worried about developing OC.…”

Section: Discussionmentioning

confidence: 55%

Factors associated with deciding between risk-reducing salpingo-oophorectomy and ovarian cancer screening among high-risk women enrolled in GOG-0199: An NRG Oncology/Gynecologic Oncology Group study

Phuong

Piedmonte

Han

et al. 2017

Gynecologic Oncology

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Objectives Women at increased genetic risk of ovarian cancer (OC) are recommended to have risk-reducing salpingo-oophorectomy (RRSO) after completion of reproductive planning. Effective screening has not been established, and novel screening modalities are being evaluated. Methods Participants chose either RRSO or a novel OC screening regimen (OCS) as their risk management option, and provided demographic and other data on BRCA mutation status, cancer worry, perceived intervention risks/benefits, perceived cancer risk, and quality-of-life at enrollment. We performed univariate and multivariate analyses to evaluate factors influencing decision between RRSO and OCS. Results Of 2,287 participants enrolled, 904 (40%) chose RRSO and 1,383 (60%) chose OCS. Compared with participants choosing OCS, participants choosing RRSO were older (p<0.0001), more likely to carry deleterious BRCA1/2 mutations (p<0.0001), perceive RRSO as effective, be more concerned about surgical harms and OCS limitations, and report higher perceived OC risk and OC-related worry. OCS participants were more likely to perceive screening as effective, be more concerned about menopausal symptoms, infertility, and loss of femininity, and report better overall quality-of-life. Twenty-four percent of participants believed they would definitely develop OC, and half estimated their lifetime OC risk as >50%, both higher than objective risk estimates. Conclusions Cancer worry, BRCA1/2 mutation status, and perceived intervention-related risks and benefits were associated with choosing between RRSO and OCS. Efforts to promote individualized, evidence-based, shared medical decision-making among high-risk women facing management choices should focus on conveying accurate OC risk estimates, clarifying the current understanding of intervention-related benefits and limitations, and addressing OC worry.

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“…Concerning our second objective, we hypothesized that depression and distress levels are higher in the pre-cancer treatment and in-cancer treatment clinical stages (Borreani et al 2014). With regards to this hypothesis, we found that participants affected with cancer showed high levels of anxiety/depression during treatment, suggesting a possible adjustment disorder that should be taken into consideration.…”

Section: Discussionmentioning

confidence: 87%

“…Evaluate whether there are significant differences among proband and family members during the specific clinical phases (pre-cancer treatment, in-cancer treatment and cancer treatment follow-up) in relation to the investigated variables. According to the literature, we hypothesize depression and distress levels are higher in the pre-treatment and in-treatment clinical stages (Borreani et al 2014). c. Understand whether genetic risk perception and cancer risk perception are significantly associated with levels of anxiety, depression and distress within the whole sample.…”

Section: Introductionmentioning

confidence: 99%

“…Psychological reactions to the outcome of genetic tests are associated both with the content of the received information, and with the subjective perception of one^s own risk of developing the disease (Godino et al 2016). Borreani et al (2014) found that perception of cancer risk was theoretically and empirically relevant in motivating cancer screening and risk reduction behaviours. Individuals who underestimate their risk of developing cancer may be less likely to engage in healthprotective behaviours, whereas those who overestimate their risk may worry excessively, exhibiting behavior dependent on the health care system (Culver et al 2013;Gopie et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

Cicero

Luca

Dorangricchia

et al. 2017

Journal of Genetic Counseling

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Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression. Participants completed the following tools during a psychological interview: a socio-demographic form, Cancer Risk Perception (CRP) and Genetic Risk Perception (GRP), Hospital Anxiety and Depression Scale (HADS) and Distress Thermometer (DT). The data seem to confirm our hypothesis. Positive and significant correlations were found between the observed variables. Moreover, genetic risk perception determined an increase in depressive symptomatology and cancer risk perception led to an increase in anxious symptomatology, specifically in participants during cancer treatment. The present results suggest the importance of assessing genetic and cancer risk perception in individuals who undergo CGO, to identify those who are at risk of a decrease in psychological well-being and of developing greater psychological distress.

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The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

Cited by 35 publications

References 46 publications

Heritable pulmonary hypertension: from bench to bedside

Heritable pulmonary hypertension: from bench to bedside

Factors associated with deciding between risk-reducing salpingo-oophorectomy and ovarian cancer screening among high-risk women enrolled in GOG-0199: An NRG Oncology/Gynecologic Oncology Group study

Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

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