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Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Loong L, Garrett A, Allen S, Choi S, Durkie M, Callaway A, Drummond J, Burghel GJ, Robinson R, Torr B, Berry IR, Wallace AJ, Eccles DM, Ellard S, Baple E, Evans DG, Woodward ER, Kulkarni A, Lalloo F, Tischkowitz M, Lucassen A, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Among authors: garrett a. Genet Med. 2022 Sep;24(9):1867-1877. doi: 10.1016/j.gim.2022.05.002. Epub 2022 Jun 3. Genet Med. 2022. PMID: 35657381 Free article.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.
Sud A, Torr B, Jones ME, Broggio J, Scott S, Loveday C, Garrett A, Gronthoud F, Nicol DL, Jhanji S, Boyce SA, Williams M, Riboli E, Muller DC, Kipps E, Larkin J, Navani N, Swanton C, Lyratzopoulos G, McFerran E, Lawler M, Houlston R, Turnbull C. Sud A, et al. Among authors: garrett a. Lancet Oncol. 2020 Aug;21(8):1035-1044. doi: 10.1016/S1470-2045(20)30392-2. Epub 2020 Jul 20. Lancet Oncol. 2020. PMID: 32702311 Free PMC article.
Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.
Loveday C, Sud A, Jones ME, Broggio J, Scott S, Gronthound F, Torr B, Garrett A, Nicol DL, Jhanji S, Boyce SA, Williams M, Barry C, Riboli E, Kipps E, McFerran E, Muller DC, Lyratzopoulos G, Lawler M, Abulafi M, Houlston RS, Turnbull C. Loveday C, et al. Among authors: garrett a. Gut. 2021 Jun;70(6):1053-1060. doi: 10.1136/gutjnl-2020-321650. Epub 2020 Aug 27. Gut. 2021. PMID: 32855306 Free PMC article.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC 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. Among authors: garrett a. 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.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, Burnichon N, Gimenez-Roqueplo AP, Mazzarotto F, Whiffin N, Ware J, Hanson H, Pesaran T, LaDuca H, Buffet A, Maher ER, Turnbull C; Cancer Variant Interpretation Group UK (CanVIG-UK). Garrett A, et al. Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906457 Free PMC article.
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Torr B, Jones C, Choi S, Allen S, Kavanaugh G, Hamill M, Garrett A, MacMahon S, Loong L, Reay A, Yuan L, Valganon Petrizan M, Monson K, Perry N, Fallowfield L, Jenkins V, Gold R, Taylor A, Gabe R, Wiggins J, Lucassen A, Manchanda R, Gandhi A, George A, Hubank M, Kemp Z, Evans DG, Bremner S, Turnbull C. Torr B, et al. Among authors: garrett a. J Med Genet. 2022 Dec;59(12):1179-1188. doi: 10.1136/jmg-2022-108655. Epub 2022 Jul 22. J Med Genet. 2022. PMID: 35868849 Free PMC article. Clinical Trial.
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
Kuzbari Z, Bandlamudi C, Loveday C, Garrett A, Mehine M, George A, Hanson H, Snape K, Kulkarni A, Allen S, Jezdic S, Ferrandino R, Westphalen CB, Castro E, Rodon J, Mateo J, Burghel GJ, Berger MF, Mandelker D, Turnbull C. Kuzbari Z, et al. Among authors: garrett a. Ann Oncol. 2023 Mar;34(3):215-227. doi: 10.1016/j.annonc.2022.12.003. Epub 2022 Dec 16. Ann Oncol. 2023. PMID: 36529447 Free article.
618 results