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Page 1
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: turnbull c. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants.
Richardson ME, Holdren M, Brannan T, de la Hoya M, Spurdle AB, Tavtigian SV, Young CC, Zec L, Hiraki S, Anderson MJ, Walker LC, McNulty S, Turnbull C, Tischkowitz M, Schon K, Slavin T, Foulkes WD, Cline M, Monteiro AN, Pesaran T, Couch FJ. Richardson ME, et al. Among authors: turnbull c. Am J Hum Genet. 2024 Nov 7;111(11):2411-2426. doi: 10.1016/j.ajhg.2024.08.022. Epub 2024 Sep 23. Am J Hum Genet. 2024. PMID: 39317201 Free PMC article.
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).
Torr B, Bell N, McCarthy R, Hamill M, Nolan J, Muralidharan S, Andrews C, Valganon-Petrizan M, Clinch Y, MacMahon S, Morilla A, George A, Ryves P, Dasani P, Adegoroye M, Schlecht H, Burghel GJ, Ornadel W, Gordon N, Steele L, Lukic S, Watts E, Evans DG, Manchanda R, Turnbull C. Torr B, et al. Among authors: turnbull c. J Med Genet. 2024 Dec 22:jmg-2024-110390. doi: 10.1136/jmg-2024-110390. Online ahead of print. J Med Genet. 2024. PMID: 39715636 Free article.
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: turnbull c. 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.
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. Among authors: turnbull c. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Second Primary Cancer Risks After Breast Cancer in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Allen I, Hassan H, Walburga Y, Huntley C, Loong L, Rahman T, Allen S, Garrett A, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Santaniello F, Goel S, Wang YW, Lavelle K, McRonald F, Eccles D, Morris E, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC. Allen I, et al. Among authors: turnbull c. J Clin Oncol. 2024 Oct 29:JCO2401146. doi: 10.1200/JCO.24.01146. Online ahead of print. J Clin Oncol. 2024. PMID: 39475295 Free PMC article.
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study.
Loong L, Huntley C, Pethick J, McRonald F, Santaniello F, Shand B, Tulloch O, Goel S, Lüchtenborg M, Allen S, Torr B, Snape K, George A, Lalloo F, Norbury G, Eccles DM, Tischkowitz M, Antoniou AC, Pharoah P, Shaw A, Morris E, Burn J, Monahan K, Hardy S, Turnbull C. Loong L, et al. Among authors: turnbull c. J Med Genet. 2024 Nov 25;61(12):1080-1088. doi: 10.1136/jmg-2024-110231. J Med Genet. 2024. PMID: 39433398 Free article.
459 results