Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: A qualitative investigation

Abstract

Purpose: Most women from BRCA1/2 mutation-positive families who did not inherit the familial mutation have breast and ovarian cancer risks similar to those of women of the same age in the general population. However, recent studies suggest that some of these noncarriers may exhibit screening practices that may be considered as excessive compared to general population screening guidelines. Reasons for such tendencies remain largely unknown. This study aims to better understand how the implications of a noncarrier status are explained to these women and how their own realization of this status affects their screening behaviors. Methods: A qualitative study was conducted with five focus groups (n = 28) in Quebec City and Montreal, Canada. Results: Thematic analysis of the discussions highlighted four major themes: (i) acquiring a noncarrier identity takes place progressively; (ii) noncarriers show a range of opinions about screening; (iii) noncarriers have mixed feelings about the follow-up by their physicians and gynecologists; and (iv) noncarriers need more information in a context where genetics progresses ever more rapidly. Conclusion: Our results provide novel insights regarding the physician-patient interaction and the organizational aspects of the health-care system that may significantly impact the cancer screening practices of BRCA1/2 noncarriers.