Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study

Abstract

Background Women carrying BRCA1/2 pathogenic variants are exposed to elevated risks of developing breast cancer (BC) and are faced by a complex decision-making process on preventative measures, i.e., risk-reducing mastectomy (RRM), and intensified breast surveillance (IBS). In this prospective cohort study we investigated the effect of anxiety, personality factors and coping styles on the decision-making process on risk management options in women with pathogenic variants in BRCA1/2. Methods Breast cancer unaffected and affected women with a pathogenic variant in the BRCA1 or BRCA2 gene were psychologically evaluated immediately before (T0), 6 to 8 weeks (T1) and 6 to 8 months (T2) after the disclosure of their genetic test results. Uptake of RRM and IBS was assessed at T2. Psychological data were gathered using questionnaires on risk perception, personality factors, coping styles, decisional conflict, depression and anxiety, including the Hospital Anxiety and Depression Scale (HADS). We performed tests on statistical significance and fitted a logistic regression based on significance level. Results A total of 98 women were included in the analysis. Baseline anxiety levels in women opting for RRM were high but decreased over time, while they increased in women opting for intensified breast surveillance (IBS). Elevated levels of anxiety after genetic test result disclosure (T1) were associated with the decision to undergo RRM (p < 0.01; OR = 1.2, 95% CI = 1.05–1.42), while personal BC history and personality factors seemed to be less relevant. Conclusions Considering psychosocial factors influencing the decision-making process of women with pathogenic variants in BRCA1/2 may help improving their genetic and psychological counselling. When opting for IBS they may profit from additional medical and psychological counselling. Trial registration Retrospectively registered at the German Clinical Trials Register under DRKS00027566 on January 13, 2022.

Psychological distress and decision‐making factors for prophylactic bilateral mastectomy in cancer‐unaffected BRCA1/2 pathogenic variant carriers

“…Concordantly with previous research that used the same personality measure, 17 personality factors were not associated with RRM decision‐making in our study. It remains unclear, if this particular personality measure is not sensitive enough to identify these differences, or if there are in fact none.…”

“…Previously identified factors that were found to influence the decision to undergo RRM were younger age, [11][12][13][14] high perceived but not actual BC risk, 11,13,15 greater anxiety 16,17 and high cancer worry. 15,18 However, some of these studies looked at mixed samples of both cancer-affected and cancer-unaffected women, as well as women with a family history of BC who had not undergone genetic testing at the time of the study.…”

“…This study is based on a previous study that investigated psychosocial and personality factors associated with decision-making in BC unaffected and affected BRCA1/2 PV carriers. 17 However, since cancer-unaffected women face different preventive decision-making scenarios, and consequently may experience different levels of psychological burden than women with BC, the present study solely focuses on cancer-unaffected carriers of BRCA1/2 PV. We hypothesised that the decision to undergo RRM may, alongside other factors, be influenced by psychosocial and personality factors.…”

Counselling Framework for Germline BRCA1/2 and PALB2 Carriers Considering Risk-Reducing Mastectomy

“…Relative to age and risk-matched controls, patients report a lower perceived breast cancer risk after RRM [100]. In a recent prospective study of 98 BRCA1/2 carriers in Germany, baseline anxiety levels were higher in women opting for RRM but decreased after surgery, whereas women opting for enhanced surveillance tended to have increased levels of anxiety over time [102]. A Dutch study of 96 BRCA1/2 carriers using the standardized BREAST-Q ® questionnaire found that patients undergoing RRM reported lower physical well-being but otherwise similar mean satisfaction with their breasts, psychosocial well-being, and sexual well-being relative to those undergoing enhanced surveillance [103].…”