Reproductive outcomes in women with BRCA 1/2 germline mutations: A retrospective observational study and literature review.

IF 1.7 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Open Medicine Pub Date : 2024-08-20 eCollection Date: 2024-01-01 DOI:10.1515/med-2024-9999

Miriam Dellino, Antonio D'Amato, Gaia Battista, Gennaro Cormio, Antonella Vimercati, Vera Loizzi, Antonio Simone Laganà, Gianluca Raffaello Damiani, Alessandro Favilli, Sandro Gerli, Daniele La Forgia, Antonella Daniele, Vittorio Agrifoglio, Ettore Cicinelli, Amerigo Vitagliano, Andrea Etrusco

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引用次数: 0

Abstract

Objective: To evaluate the reproductive outcomes of patients bearing BRCA-1 and BRCA-2 mutations.

Methods: In this retrospective observational cohort study, we assessed data from BRCA-1 and BRCA-2 carriers, analyzing demographics, oncological history, and reproductive outcomes. Statistical analysis compared BRCA-1 and BRCA-2 carriers. A thorough review of the literature was carried out.

Results: Fifty-eight patients were included. BRCA-1 and BRCA-2 mutations were equally distributed. Eighty-nine pregnancies occurred in our series, hesitated in 73 live births and 19 miscarriages. Mean age at first and last pregnancy was 27.8 ± 4.8 and 31.6 ± 4.8 years old. Thirty-nine patients have had at least one live birth (67.2%). Mean number of live births was 1.9 ± 0.6. Live birth rate (LBR) was 81.1% and miscarriage rate was 32.8%. Spontaneous fertility was unaltered, as evidenced by high LBR. Subgroup analysis revealed no significant differences between BRCA-1 and BRCA-2 carriers.

Conclusions: Our results shows that spontaneous reproductive outcomes in BRCA-mutated patients are reassuring. Despite evidence indicating a decrease in ovarian reserve among BRCA patients, this factor seems to not impact spontaneous fertility negatively. Further research is needed, and individuals with BRCA mutations should consider early family planning and fertility preservation in case of partner absence.

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BRCA 1/2种系突变妇女的生殖结局：一项回顾性观察研究和文献综述。

目的：评估 BRCA-1 和 BRCA-2 基因突变患者的生殖结局：评估 BRCA-1 和 BRCA-2 基因突变患者的生殖结局：在这项回顾性观察队列研究中，我们评估了 BRCA-1 和 BRCA-2 基因携带者的数据，分析了人口统计学、肿瘤病史和生殖结果。统计分析比较了 BRCA-1 和 BRCA-2 携带者。对文献进行了全面的回顾：结果：共纳入 58 名患者。BRCA-1 和 BRCA-2 基因突变的分布情况相当。在我们的系列研究中，共有 89 例妊娠，其中 73 例活产，19 例流产。首次怀孕和最后一次怀孕的平均年龄分别为（27.8 ± 4.8）岁和（31.6 ± 4.8）岁。39 名患者至少有过一次活产（67.2%）。平均活产次数为 1.9 ± 0.6。活产率为 81.1%，流产率为 32.8%。自发生育率没有改变，高活产率证明了这一点。亚组分析显示，BRCA-1 和 BRCA-2 携带者之间没有明显差异：我们的研究结果表明，BRCA 基因突变患者的自发生育结果令人欣慰。尽管有证据表明 BRCA 患者的卵巢储备功能下降，但这一因素似乎不会对自发生育产生负面影响。还需要进一步的研究，BRCA 基因突变患者应考虑尽早进行计划生育，并在没有伴侣的情况下保留生育能力。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Open Medicine Medicine-General Medicine

CiteScore

3.00

自引率

0.00%

发文量

153

审稿时长

20 weeks

期刊介绍： Open Medicine is an open access journal that provides users with free, instant, and continued access to all content worldwide. The primary goal of the journal has always been a focus on maintaining the high quality of its published content. Its mission is to facilitate the exchange of ideas between medical science researchers from different countries. Papers connected to all fields of medicine and public health are welcomed. Open Medicine accepts submissions of research articles, reviews, case reports, letters to editor and book reviews.