Speight, B;
Hanson, H;
Turnbull, C;
Hardy, S;
Drummond, J;
Khorashad, J;
Wragg, C;
Page, P;
Parkin, NW;
Rio-Machin, A;
et al.
Speight, B; Hanson, H; Turnbull, C; Hardy, S; Drummond, J; Khorashad, J; Wragg, C; Page, P; Parkin, NW; Rio-Machin, A; Fitzgibbon, J; Kulasekararaj, AG; Hamblin, A; Talley, P; McVeigh, TP; Snape, K; Consensus Meeting Attendees
(2023)
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Br J Haematol, 201 (1).
pp. 25-34.
ISSN 1365-2141
https://doi.org/10.1111/bjh.18675
SGUL Authors: Snape, Katie Mairwen Greenwood
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Abstract
The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to haematological malignancy. There are currently no national or international best practice guidelines with respect to management of carriers of such variants or of their at-risk relatives. To address this gap, the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group held a workshop over two days on 28-29th April 2022, with the aim of establishing consensus guidelines on relevant clinical and laboratory pathways. The workshop focussed on the management of disease-causing germline variation in the following genes: DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2. Using a pre-workshop survey followed by structured discussion and in-meeting polling, we achieved consensus for UK best practice in several areas. In particular, high consensus was achieved on issues regarding standardised reporting, variant classification, multidisciplinary team working and patient support. The best practice recommendations from this meeting may be applicable to an expanding number of other genes in this setting.
Item Type: | Article | ||||||||
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Additional Information: | © 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (http://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. | ||||||||
Keywords: | clinical pathways, germline predisposition, haematological malignancy, leukaemia, transplant, variant classification, Humans, Genetic Predisposition to Disease, State Medicine, Hematologic Neoplasms, Germ-Line Mutation, England, Germ Cells, Consensus Meeting Attendees, Germ Cells, Humans, Hematologic Neoplasms, Genetic Predisposition to Disease, Germ-Line Mutation, State Medicine, England, clinical pathways, germline predisposition, haematological malignancy, leukaemia, transplant, variant classification, 1102 Cardiorespiratory Medicine and Haematology, Immunology | ||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Institute of Medical & Biomedical Education (IMBE) | ||||||||
Journal or Publication Title: | Br J Haematol | ||||||||
ISSN: | 1365-2141 | ||||||||
Language: | eng | ||||||||
Dates: |
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Publisher License: | Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0 | ||||||||
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PubMed ID: | 36744544 | ||||||||
Web of Science ID: | WOS:000959383500009 | ||||||||
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URI: | https://openaccess.sgul.ac.uk/id/eprint/116661 | ||||||||
Publisher's version: | https://doi.org/10.1111/bjh.18675 |
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