Healthy individuals and patients with cancer who are carriers of germline pathogenic variants in the BRCA1/2 genes face multiple reproductive challenges that require appropriate counseling and specific expertise. On December 5th–7th, 2019, patient advocates and physicians with expertise in the field of reproductive medicine, fertility preservation, and oncology were invited to “San Giuseppe Moscati” Hospital in Avellino (Italy) for a workshop on reproductive management of women with germline pathogenic variants in the BRCA1/2 genes. From the discussion regarding the current evidence and future prospective in the field, eight main research questions were formulated and eight recommendations were developed regarding fertility, fertility preservation, preimplantation genetic testing, and pregnancy in healthy carriers and patients with cancer. Several misconceptions about the topic persist among health care providers and patients often resulting in a discontinuous and suboptimal management. With the aim to offer patient-tailored counseling about reproductive issues, both awareness of current evidences and research should be promoted.

中文翻译：

---

BRCA1/2 基因种系致病变异携带者的生殖问题：专家会议

作为 BRCA1/2 基因种系致病变异携带者的健康个体和癌症患者面临多种生殖挑战，需要适当的咨询和特定的专业知识。2019 年 12 月 5 日至 7 日，在生殖医学、生育保护和肿瘤学领域具有专业知识的患者倡导者和医生应邀到位于阿韦利诺（意大利）的“San Giuseppe Moscati”医院举办关于生殖系女性生殖管理的研讨会BRCA1/2 基因中的致病变异。从对该领域当前证据和未来前景的讨论中，制定了八个主要研究问题，并就健康携带者和癌症患者的生育能力、生育能力保留、植入前基因检测和妊娠提出了八项建议。医疗保健提供者和患者中对该主题的一些误解仍然存在，这通常导致不连续和次优的管理。为了提供针对患者的生殖问题咨询，应促进对当前证据和研究的认识。