癌症抑制基因 BRCA1 相关蛋白-1（BAP1）是一种被认可的抑制肿瘤基因。胚系 BAP1 的致病/可能致病等位基因变异与多种肿瘤的易感性相关，包括葡萄膜黑素瘤、恶性胸膜和腹膜间皮瘤、肾细胞癌以及特定的非恶性皮肤肿瘤，作为常染色体显性的 BAP1-肿瘤易感综合征的一部分。BAP1 携带者发展至少一个 BAP1-相关肿瘤的终身风险高达 85%，尽管由于收集偏差的存在，当前的风险估计很可能被高估了。关于许多罕见的癌症易感综合征一样，目前对于监测的实用性科学证据有限，因此，对于 BAP1 携带者的管理建议基于专家意见。迄今为止，欧洲关于 BAP1 携带者的建议尚未发表，但由于这种新近描述的综合征的出现表型和通过大型基因面板或肿瘤测序发现的 BAP1 携带者数量增加，这种建议是必需的。为此，英国 CanGene-CanVar 项目的临床指南工作小组邀请了欧洲合作者合作，制定了在欧洲范围内协调监测计划的指南。在核心小组和扩展专家小组（包括遗传学家、眼科学家、肿瘤学家、皮肤科医生和病理学家等34位欧洲专家）完成文献综述和 Delphi 调查后，我们获得了与 BAP1 检测和监测相关的建议。同时，我们也认识到这些基本以证据为依据但务实的建议将随着来自研究合作的进一步数据不断演变，以完善对表型谱和监测结果的认识。©2023. 作者。

BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall lifetime risk for BAP1 carriers to develop at least one BAP1-associated tumour is up to 85%, although due to ascertainment bias, current estimates of risk are likely to be overestimated. As for many rare cancer predisposition syndromes, there is limited scientific evidence to support the utility of surveillance and, therefore, management recommendations for BAP1 carriers are based on expert opinion. To date, European recommendations for BAP1 carriers have not been published but are necessary due to the emerging phenotype of this recently described syndrome and increased identification of BAP1 carriers via large gene panels or tumour sequencing. To address this, the Clinical Guideline Working Group of the CanGene-CanVar project in the United Kingdom invited European collaborators to collaborate to develop guidelines to harmonize surveillance programmes within Europe. Recommendations with respect to BAP1 testing and surveillance were achieved following literature review and Delphi survey completed by a core group and an extended expert group of 34 European specialists including Geneticists, Ophthalmologists, Oncologists, Dermatologists and Pathologists. It is recognised that these largely evidence-based but pragmatic recommendations will evolve over time as further data from research collaborations informs the phenotypic spectrum and surveillance outcomes.© 2023. The Author(s).