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Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG, Woodward ER, Burghel GJ, Allen S, Torr B, Hamill M, Kavanaugh G, Hubank M, Bremner S, Jones CI, Schlecht H, Astley S, Bowers S, Gibbons S, Ruane H, Fosbury C, Howell SJ, Forde C, Lalloo F, Newman WG, Smith MJ, Howell A, Turnbull C, Gandhi A. Evans DG, et al. Among authors: burghel gj. Genet Med Open. 2023 Nov 25;2:100849. doi: 10.1016/j.gimo.2023.100849. eCollection 2024. Genet Med Open. 2023. PMID: 39669617 Free PMC article.
Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.
Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, Burghel GJ, Jain S, Klimczak LJ, Lindsay H, Roulson JA, Taylor CF, Thygesen H, Cameron AJ, Ridley AJ, Mott HR, Gordenin DA, Knowles MA. Hurst CD, et al. Among authors: burghel gj. Cancer Cell. 2017 Nov 13;32(5):701-715.e7. doi: 10.1016/j.ccell.2017.08.005. Cancer Cell. 2017. PMID: 29136510 Free PMC article.
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. Among authors: burghel gj. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392
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. Among authors: burghel gj. 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.
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England.
Flaum N, Morgan RD, Burghel GJ, Bulman M, Clamp AR, Hasan J, Mitchell CL, Badea D, Moon S, Hogg M, Hadjiyiannakis D, Clancy T, Schlecht H, Woodward ER, Crosbie EJ, Edmondson RJ, Wallace AJ, Jayson GC, Lalloo FI, Harkness EF, Evans DGR. Flaum N, et al. Among authors: burghel gj. Eur J Hum Genet. 2020 Nov;28(11):1541-1547. doi: 10.1038/s41431-020-0692-y. Epub 2020 Jul 10. Eur J Hum Genet. 2020. PMID: 32651552 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. Among authors: burghel gj. 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.
Early Adaptation of Colorectal Cancer Cells to the Peritoneal Cavity Is Associated with Activation of "Stemness" Programs and Local Inflammation.
Barriuso J, Nagaraju RT, Belgamwar S, Chakrabarty B, Burghel GJ, Schlecht H, Foster L, Kilgour E, Wallace AJ, Braun M, Dive C, Evans DG, Bristow RG, Saunders MP, O'Dwyer ST, Aziz O. Barriuso J, et al. Among authors: burghel gj. Clin Cancer Res. 2021 Feb 15;27(4):1119-1130. doi: 10.1158/1078-0432.CCR-20-3320. Epub 2020 Nov 30. Clin Cancer Res. 2021. PMID: 33257424 Free PMC article.
66 results