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Page 1
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: torr b. 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.
Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic.
Sud A, Jones ME, Broggio J, Loveday C, Torr B, Garrett A, Nicol DL, Jhanji S, Boyce SA, Gronthoud F, Ward P, Handy JM, Yousaf N, Larkin J, Suh YE, Scott S, Pharoah PDP, Swanton C, Abbosh C, Williams M, Lyratzopoulos G, Houlston R, Turnbull C. Sud A, et al. Among authors: torr b. Ann Oncol. 2020 Aug;31(8):1065-1074. doi: 10.1016/j.annonc.2020.05.009. Epub 2020 May 19. Ann Oncol. 2020. PMID: 32442581 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: torr b. Gut. 2021 Jun;70(6):1053-1060. doi: 10.1136/gutjnl-2020-321650. Epub 2020 Aug 27. Gut. 2021. PMID: 32855306 Free PMC article.
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes.
Cubuk C, Garrett A, Choi S, King L, Loveday C, Torr B, Burghel GJ, Durkie M, Callaway A, Robinson R, Drummond J, Berry I, Wallace A, Eccles D, Tischkowitz M, Whiffin N, Ware JS, Hanson H, Turnbull C, CanVIG-Uk. Cubuk C, et al. Among authors: torr b. Genet Med. 2021 Nov;23(11):2096-2104. doi: 10.1038/s41436-021-01265-z. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230640 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: torr b. 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. Among authors: torr b. 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.
Breast cancer risk assessment for prescription of menopausal hormone therapy in women with a family history of breast cancer: an epidemiological modelling study.
Huntley C, Torr B, Kavanaugh G, George A, Hanson H, Snape K, Broggio J, Glasgow L, Tischkowitz M, Evans DG, Antoniou AC, Turnbull C. Huntley C, et al. Among authors: torr b. Br J Gen Pract. 2024 Aug 29;74(746):e610-e618. doi: 10.3399/BJGP.2023.0327. Print 2024 Sep. Br J Gen Pract. 2024. PMID: 38724186 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.
BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial.
Torr B, Jones C, Kavanaugh G, Hamill M, Allen S, Choi S, Garrett A, Valganon-Petrizan M, MacMahon S, Yuan L, Way R, Harder H, Gold R, Taylor A, Gabe R, Lucassen A, Manchanda R, Fallowfield L, Jenkins V, Gandhi A, Evans DG, George A, Hubank M, Kemp Z, Bremner S, Turnbull C. Torr B, et al. Br J Cancer. 2024 Nov;131(9):1506-1515. doi: 10.1038/s41416-024-02832-2. Epub 2024 Oct 1. Br J Cancer. 2024. PMID: 39349619 Free PMC article. Clinical Trial.
32 results