[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-383015-105":59,"doc-detail-383015-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","clinical-practice-guidelines-for-the-diagnosis-and-surveillance-of-bap1-tumour-predisposition-syndrome","Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome","","BRCA1-associated protein-1 (BAP1) is a tumour suppressor gene, and germline BAP1 pathogenic/likely pathogenic variants cause autosomal dominant BAP1 tumour predisposition syndrome (BAP1-TPDS). Lifetime risk for at least one BAP1-associated tumour may reach 85%, with estimates potentially inflated by ascertainment bias. Because evidence for surveillance benefits is limited, recommendations are derived from expert opinion and harmonized across Europe. The guideline was developed using literature review and a Delphi survey of 34 specialists, building pragmatic, evolving guidance for testing and surveillance.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/clinical-practice-guidelines-for-the-diagnosis-and-surveillance-of-bap1-tumour-predisposition-syndrome/383015/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/clinical-practice-guidelines-for-the-diagnosis-and-surveillance-of-bap1-tumour-predisposition-syndrome/383015.png","ImageObject",300,407,{"name":92,"@type":93},"Jasmine","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-27","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":39},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What is BAP1 tumour predisposition syndrome (BAP1-TPDS)?","Question",{"text":112,"@type":113},"BAP1-TPDS is caused by germline BAP1 pathogenic/likely pathogenic variants and is inherited in an autosomal dominant manner, predisposing carriers to multiple tumour types.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Which cancers are associated with BAP1 carriers?",{"text":117,"@type":113},"Reported associations include uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma, and certain non-malignant skin neoplasms; additional tumour types have also been suggested.",{"name":119,"@type":110,"acceptedAnswer":120},"How were the European surveillance and testing recommendations developed?",{"text":121,"@type":113},"Recommendations were created through literature review and a Delphi survey, involving a core group and an extended expert group of 34 European specialists across genetics and multiple clinical specialties.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},383015,1790627717,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":39,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":44,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144},2336478487870,"https://ap-avatar.wpscdn.com/davatar_085a072bc5b1113ac321206ff7593b45","[www.nature.com/ejhg](www.nature.com/ejhg)  \nARTICLE OPEN   \nClinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome  \nFiona Lalloo1, Anju Kulkarni2, Cindy Chau3, Maartje Nielsen 4, Michael Sheaff5, Jeremy Steele6, Monica Hamill9, Beth Torr 9, Marc Tischkowitz 10, Delphi respondents* and Helen Hanson 9,11  \n© The Author(s) 2023  \nRemco van Doorn7, Karin Wadt8,✉  \n\n|  | 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 |  |\n| --- | --- | --- |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n|  |  |  |\n| surveillance outcomes. |  |  |\n|  | European Journal of Human Genetics (2023) 31:1261–1269; [https://doi.org/10.1038/s41431-023-01448-z](https://doi.org/10.1038/s41431-023-01448-z) |  |\n|  |  |  |\n\nINTRODUCTION  \nBRCA1-associated protein-1 (BAP1) was identified as a tumour suppressor gene in 2008 [1]. Germline pathogenic variants (GPV, including likely pathogenic variants) in BAP1 have subsequently been associated with a variety of tumours resulting in the recognition of BAP1-associated tumour predisposition syndrome (BAP1-TPDS) [2, 3]. GPV were originally associated with familial occurrence of cutaneous melanocytic tumours but the spectrum of tumours is now accepted to include uveal melanoma, malignant mesothelioma of the pleura and the peritoneum, renal cell carcinoma and specific non-malignant neoplasms of the skin. More recently additional tumour types including meningioma, cholangiocarcinoma and hepatocellular carcinoma have been suggested as possible associations with BAP1-TPDS [2, 4].  \nLifetime cancer risks for individuals with a BAP1 GPV (henceforth referred to as BAP1 carriers) are reported to be 20–25% for mesothelioma, uveal and cutaneous melanoma, with lower lifetime risks reported for renal cell carcinoma and other associated  \ncancers. The overall lifetime risk for at least one BAP1-associated tumour is up to 85%[2, 5] . However, due to ascertainment bias, current estimates of cancer risk are likely to be overestimated.  \nBAP1 GPV are inherited in an autosomal dominant manner and once a GPV is identified in an individual, predictive (also known as pre-symptomatic) testing can be offered to relatives. This facili","cbCaipHPpum8oYZ0","https://ap.wps.com/l/cbCaipHPpum8oYZ0","pdf",589342,"English","# Introduction\n## Background of BAP1-TPDS\n## Cancer risks and inheritance\n## Rationale for surveillance recommendations","[{\"question\":\"What is BAP1 tumour predisposition syndrome (BAP1-TPDS)?\",\"answer\":\"BAP1-TPDS is caused by germline BAP1 pathogenic/likely pathogenic variants and is inherited in an autosomal dominant manner, predisposing carriers to multiple tumour types.\"},{\"question\":\"Which cancers are associated with BAP1 carriers?\",\"answer\":\"Reported associations include uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma, and certain non-malignant skin neoplasms; additional tumour types have also been suggested.\"},{\"question\":\"How were the European surveillance and testing recommendations developed?\",\"answer\":\"Recommendations were created through literature review and a Delphi survey, involving a core group and an extended expert group of 34 European specialists across genetics and multiple clinical specialties.\"}]","Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome | PDF",1790253636,23]