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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.
'A good decision is the one that feels right for me': Codesign with patients to inform theoretical underpinning of a decision aid website.
Kohut K, Morton K, Hurley K, Turner L; CanGene‐CanVar Patient Reference Panel; Dale C, Eastbrook S, Gold R, Henwood K, Patton S, Punjabi R, White H, Young C, Young J, Bancroft E, Barnett L, Cable S, Connolly G, Coad B, Forman A, Hanson H, Kavanaugh G, Sahan K, Snape K, Torr B, Way R, Winchester E, Youngs A; International Lynch Decision Aid Stakeholder Panel; Eccles D, Foster C. Kohut K, et al. Among authors: coad b. Health Expect. 2024 Feb;27(1):e13844. doi: 10.1111/hex.13844. Epub 2023 Sep 13. Health Expect. 2024. PMID: 37705192 Free PMC article.
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. J Med Genet. 2024 Jan 19;61(2):142-149. doi: 10.1136/jmg-2023-109440. J Med Genet. 2024. PMID: 38050080 Free PMC article.
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. 2025 Feb;27(2):101305. doi: 10.1016/j.gim.2024.101305. Epub 2024 Oct 24. Genet Med. 2025. PMID: 39489894 Free article.
Optimizing risk-reducing surgery and aspirin decision aids for Lynch syndrome carriers using the person-based approach: A think-aloud interview study.
Kohut K, Morton K, Turner L, Foster R, Bancroft EK, Burn J, Crosbie EJ, Dominguez-Valentin M, Esplen MJ, Hanson H, Hurley K, Moller P, Ryan N, Snape K; CanGene‐CanVar Patient Reference Panel; International Lynch Decision Aid Stakeholder Panel; Eccles D, Foster C. Kohut K, et al. J Genet Couns. 2025 Aug;34(4):e70089. doi: 10.1002/jgc4.70089. J Genet Couns. 2025. PMID: 40772451 Free PMC article.
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.
Allen S, Rowlands CF, Butler S, Durkie M, Horton C, Pesaran T, Richardson M, Robinson R, Garrett A, Burghel GJ, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Snape K, Andreou A, Maher ER, Hanson H, McVeigh T, Turnbull C; CanVIG-UK. Allen S, et al. Genet Med. 2025 Nov;27(11):101565. doi: 10.1016/j.gim.2025.101565. Epub 2025 Sep 4. Genet Med. 2025. PMID: 40916913 Free article.
57 results