患有乳腺癌的年轻女性的生育偏好与行为：胚系基因携带者与非携带者

Fertility Preferences and Practices Among Young Women With Breast Cancer: Germline Genetic Carriers Versus Noncarriers.

作者信息

Lewinsohn Rebecca, Zheng Yue, Rosenberg Shoshana M, Ruddy Kathryn J, Tamimi Rulla M, Schapira Lidia, Peppercorn Jeffrey, Borges Virginia F, Come Steven, Snow Craig, Ginsburg Elizabeth S, Partridge Ann H

机构信息

Harvard Medical School, Boston, MA; Medical Oncology, Dana-Farber Cancer Institute, Boston, MA; Breast Oncology Program, Dana-Farber Brigham Cancer Center, Boston, MA.

Data Sciences, Dana-Farber Cancer Institute, Boston, MA.

出版信息

Clin Breast Cancer. 2023 Apr;23(3):317-323. doi: 10.1016/j.clbc.2022.12.012. Epub 2022 Dec 22.

DOI:10.1016/j.clbc.2022.12.012

PMID:36628811

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.

摘要

背景

携带种系基因致病性变异的年轻乳腺癌女性可能面临独特的生育问题，但关于携带者与非携带者之间生育偏好和行为的比较数据有限。

患者与方法

纳入了年轻女性乳腺癌研究（NCT01468246）的参与者，这是一个对40岁及以下被诊断为乳腺癌的女性的前瞻性队列研究，她们完成了一份改良的生育问题调查问卷，本分析纳入了这些参与者。

结果

在1052名符合条件的参与者中，118名（11%）检测出致病性变异呈阳性。携带者（46%，[54/118]）和非携带者（37%，[346/934]）中，在诊断前希望生育更多亲生孩子的比例相似（P = 0.23），诊断后这种愿望也同样下降（携带者为30% [35/118]，非携带者为26% [244/934]，P = 0.35）。在诊断后希望生育孩子的人群中（n = 279），携带者中担心癌症风险遗传的情况更为常见（74% [26/35]，非携带者为36% [88/244]，P < 0.01）。携带者更有可能报告担心癌症风险遗传导致对未来怀孕缺乏确定性或兴趣（20% [16/81]，非携带者为7% [49/674]，P = 0.001）。携带者（36% [43/118]）和非携带者（38% [351/934]）中对治疗后不孕有些或非常担心的比例相似（P = 0.65）；生育力保存策略的使用率也相似（携带者为14% [17/118]，非携带者为12% [113/934]，P = 0.78）。