Highlights
- •Young women with BC who carry pathogenic variants may face fertility concerns.
- •We compared responses to a fertility survey between carriers and noncarriers.
- •Desire for and concern about future fertility did not vary by carrier status.
- •Carriers reported more concern about future offspring inheriting the variant.
- •Clinicians should provide counseling for carriers on risk-mitigating strategies.
ABSTRACT
Background
Young women with breast cancer who carry germline genetic pathogenic variants may
face distinct fertility concerns, yet limited data exist comparing fertility preferences
and practices between carriers and noncarriers.
Patients and Methods
Participants in the Young Women's Breast Cancer Study (NCT01468246), a prospective
cohort of women diagnosed with breast cancer at ≤40 years, who completed a modified
Fertility Issues Survey were included in this analysis.
Results
Of 1052 eligible participants, 118 (11%) tested positive for a pathogenic variant.
Similar proportions (P = .23) of carriers (46%, [54/118]) and noncarriers (37%, [346/934]) desired more
biologic children prediagnosis, and desire decreased similarly postdiagnosis (carriers,
30% [35/118] vs. noncarriers, 26% [244/934], P = .35). Among those desiring children postdiagnosis (n = 279), concern about cancer risk heritability was more common among carriers (74%
[26/35] vs. noncarriers, 36% [88/244], P < .01). Carriers were more likely to report that concern about cancer risk heritability
contributed to a lack of certainty or interest in future pregnancies (20% [16/81]
vs. noncarriers, 7% [49/674], P = .001). Similar proportions (P = .65) of carriers (36% [43/118]) and noncarriers (38% [351/934]) were somewhat or
very concerned about infertility post-treatment; utilization of fertility preservation
strategies was also similar (carriers, 14% [17/118] vs. noncarriers, 12% [113/934],
P = .78).
Conclusion
Carriers were similarly concerned about future fertility and as likely to pursue fertility
preservation as noncarriers. Concern about cancer risk heritability was more frequent
among carriers and impacted decisions not to pursue future pregnancies for some, underscoring
the importance of counseling regarding strategies to prevent transmission to offspring,
including preimplantation genetic testing.
Keywords
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Article info
Publication history
Published online: December 21, 2022
Accepted:
December 19,
2022
Received in revised form:
December 15,
2022
Received:
September 27,
2022
Identification
Copyright
© 2023 Elsevier Inc. All rights reserved.
