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Page 1
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC).
Kohut K, Speight B, Young J, Way R, Wiggins J, Monje-Garcia L, Eccles DM, Foster C, Turner L, Snape K, Hanson H; CanGene-CanVar Patient Reference Panel; Consensus Meeting Participants. Kohut K, et al. Among authors: speight b. J Med Genet. 2024 Jan 19;61(2):142-149. doi: 10.1136/jmg-2023-109440. J Med Genet. 2024. PMID: 38050080 Free article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
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.
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. Speight B, et al. Br J Haematol. 2023 Apr;201(1):25-34. doi: 10.1111/bjh.18675. Epub 2023 Feb 6. Br J Haematol. 2023. PMID: 36744544
Management of patients with germline predisposition to haematological malignancies considered for allogeneic blood and marrow transplantation: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar, NHS England Genomic Laboratory Hub (GLH) Haematological Malignancies Working Group and the British Society of Blood and Marrow Transplantation and cellular therapy (BSBMTCT).
Clark A, Thomas S, Hamblin A, Talley P, Kulasekararaj A, Grinfeld J, Speight B, Snape K, McVeigh TP, Snowden JA. Clark A, et al. Among authors: speight b. Br J Haematol. 2023 Apr;201(1):35-44. doi: 10.1111/bjh.18682. Epub 2023 Feb 14. Br J Haematol. 2023. PMID: 36786081 Free article.
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.
Tsoulaki O, Tischkowitz M, Antoniou AC, Musgrave H, Rea G, Gandhi A, Cox K, Irvine T, Holcombe S, Eccles D, Turnbull C, Cutress R; Meeting Attendees; Archer S, Hanson H. Tsoulaki O, et al. Br J Cancer. 2024 Jun;130(12):2027-2036. doi: 10.1038/s41416-024-02733-4. Epub 2024 Jun 4. Br J Cancer. 2024. PMID: 38834743 Free PMC article. Review.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24:101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
18 results