英国癌症遗传学小组(UKCGG)和NHS英格兰血液肿瘤工作组的最佳实践共识指南：血液恶性肿瘤的胚系易感性

Recetved:29 November 2022Accepted:17 January 2023D0L:10.1111/bh.18675BJHaemGUIDELINEGermline predisposition to haematological malignancies:Bestpractice consensus guidelines from the UK Cancer GeneticsGroup(UKCGG),CanGene-CanVar and the NHS EnglandHaematological Oncology Working GroupBeverley Speight'Helen Hanson23 Clare Turnbull34 Steven HardysJames Drummond'Jamshid Khorashad3 Christopher Wraggs Paula Page?Nicholas W.Parkins Ana Rio-Machin Jude FitzgibbonAustin Gladston Kulasekararaj12Angela Hamblin'3 Polly Talley45Terri P.McVeigh34 Katie Snape210 on behalf of Consensus Meeting AttendeesEast Anglian MedicalGenetics Ser vice,Addenbrooke's Treatment Centre,Addenbrooke's Hospital,Cambridge,UKSouth West Thames Regional Genetics Service,St Geoge's University Hospitals NHS Foundation Trust.London.UKSInstitute of Cancer Research.Sutton.London.UKCancer Genetics Unit,The Royal Marsden NHS Foundation Trust,London,UKSNational Disease Registration Service.NHS Digital London,UKSouth West Genomics Laboratory Hub,Bristol Genetics Laboratory.North Bristol NHS Trust.Pathology Buikding.Southmead Hopital Bristol.UKWest Midlands Regional Genetics Laboratory,Birmingham Women's and Children's NHS Foundation Trust.Birmingham.UKMolecular Pathology Laboratory.Synnovis Analytics.King's College Hospital London.UKCentre for Genomicsand Computational Biology.Barts Cancer Institute.Queen Mary University of London,London UKKing's College Hospital NHS Foundation Trust,London,UKNational Institute for Health and Care Research and Wellcome King's Research Facility,London,UKKing's College London,London.UKOxford University Hospitals NHS Foundat ion Trust and Central and South Genomic Laboratory Hub,Oxford,UKMGenomics Unit,NHS UK and NHS Improvement,Leeds,UKi5Nor th East and Yorkshire Genomic Laboratory Hub,Leeds,UKCorrespondenceBeverleySpeight,East Anglian MedicalSummaryGenetics Service,Cambridge BiomedicalThe implementation of whole genome sequencing and large somatic gene panelsCampus,Box 134,Level 6,Addenbrooke'sTreatment Centre,Addenbrooke's Hospital,in haematological malignancies is identifying an increasing number of individualsCambridge,UK.with either potential or confirmed germline predisposition to haematological ma-Email:beverley.speig ht@nhs.netlignancy.There are currently no national or international best practice guidelineswith respect to management of carriers of such variants or of their at-risk relativesTo address this gap,the UK Cancer Genetics Group(UKCGG),CanGene-CanVarand the NHS England Haematological Oncology Working Group held a workshopover two days on 28-29th April 2022,with the aim of establishing consensus guide-lines on relevant clinical and laboratory pathways.The workshop focussed on themanagement of disease-causing germline variation in the following genes:DDX41,Terri P.McVeigh and Katie Snape are Joint last authors.This is anopen access article under the terms of the Creative Commons Attribution-NonCommercial-NoDer ivs License,which permits use and di