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.

Keywords: Anxiety; Breast cancer, familial; Decision making; Risk reduction behavior; Risk-reducing mastectomy.

Fig. 1

Study flow chart

Fig. 2

Anxiety levels over time. Anxiety level mean scores T0 through T2, classified by decision on preventative measure (T1). Abbreviations: T = measuring point, T0 = at baseline before disclosure of genetic test result, T1 = 6 to 8 weeks after the genetic test result disclosure, T2 = 6–8 months after the genetic test result disclosure, RRM = risk-reducing mastectomy (including bilateral and contralateral risk-reducing mastectomy), IBS = intensified breast surveillance