Staff profiles
Dr Gillian Borthwick
National Research Coordinator, NIHR Genetics Specialty Group & Collaborative Group for Genetics in Healthcare
- Telephone: 22-8613 (0191 241 8613)
- Address: Institute of Genetic Medicine,
Central Parkway,
Newcastle
NE1 3BZ
Background
Qualifications
BSc(Hons) Biochemistry, University of Glasgow
PhD University of Glasgow
Publications
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Articles
- Lloyd KE, Hall LH, Ziegler L, Foy R, Borthwick GM, MacKenzie M, Taylor DG, Smith SG. GPs' willingness to prescribe aspirin for cancer preventive therapy in Lynch syndrome: a factorial randomised trial investigating factors influencing decisions. British Journal of General Practice 2023, 73(729), e302-e309.
- Gallon R, Phelps R, Hayes C, Brugieres L, Guerrini-Rousseau L, Colas C, Muleris M, Ryan NAJ, Evans DG, Grice H, Jessop E, Kunzemann-Martinez A, Marshall L, Schamschula E, Oberhuber K, Azizi AA, Baris Feldman H, Beilken A, Brauer N, Brozou N, Dahan K, Demirsoy U, Florkin B, Foulkes W, Januszkiewicz-Lewandowska D, Jones KJ, Kratz CP, Lobitz S, Meade J, Nathrath M, Pander HJ, Perne C, Ragab I, Ripperger T, Rosenbaum T, Rueda D, Sarosiek T, Sehested A, Spier I, Suerink M, Zimmermann SY, Zschocke J, Borthwick GM, Wimmer K, Burn J, Jackson MS, Santibanez-Koref M. Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency. Gastroenterology 2023, 164(4), 579-592.e8.
- Bohaumilitzky L, Kluck K, Huneburg R, Gallon R, Nattermann J, Kirchner M, Kristiansen G, Hommerding O, Pfuderer PL, Wagner L, Echterdiek F, Kosegi S, Muller N, Fischer K, Nelius N, Hartog B, Borthwick G, Busch E, Haag GM, Blaker H, Moslein G, von Knebel Doeberitz M, Seppala TT, Ahtiainen M, Mecklin J-P, Bishop DT, Burn J, Stenzinger A, Budczies J, Kloor M, Ahadova A. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology 2022, 162(3), 907-919.e10.
- Mathers JC, Elliott F, Macrae F, Mecklin J-P, Moslein G, McRonald FE, Bertario L, Evans DG, Gerdes A-M, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar RS, Seppala TT, Thomas HJW, Sheth HJ, Pylvanainen K, Reed L, Borthwick GM, Bishop DT, Burn J. Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up. Cancer Prevention Research 2022, 15(9), 623-634.
- Gallon R, Sheth H, Hayes C, Redford L, Alhilal G, O'Brien O, Spiewak H, Waltham A, McAnulty C, Izuogu OG, Arends MJ, Oniscu A, Alonso AM, Laguna SM, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics. Human Mutation 2020, 41(1), 332-341.
- Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin J-P, Moslein G, McRonald FE, Bertario L, Evans DG, Gerdes A-M, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppala T, Thomas HJW, Pylvanainen K, Borthwick GM, Mathers JC, Bishop DT, Boussioutas A, Brewer C, Cook J, Eccles D, Ellis A, Hodgson SV, Lubinski J, Maher ER, Porteous ME, Sampson J, Scott RJ, Side L. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. The Lancet 2020, 395(10240), 1855-1863.
- Gallon R, Müglegger B, Wenzel S-S, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Feldman HB, Chong AL, Demirsoy U, Florkin B, Imschweller T, Januskiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alanso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes. Human Mutation 2019, 40(5), 649-655.
- Watkins SJ, Borthwick GM, Oakenfull R, Robson A, Arthur HM. Angiotensin II-induced cardiomyocyte hypertrophy in vitro is TAK1-dependent and Smad2/3-independent. Hypertension Research 2012, 35(4), 393-398.
- Watkins SJ, Borthwick GM, Arthur HM. The H9C2 cell line and primary neonatal cardiomyocyte cells show similar hypertrophic responses in vitro. In Vitro Cellular & Developmental Biology: Animal 2011, 47(2), 125-131.
- Yu Wai Man P, Lai-Cheong J, Borthwick GM, He LP, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM. Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles. Investigative Ophthalmology & Visual Science 2010, 51(7), 3347-3353.
- Mahmoud M, Borthwick GM, Hislop A, Arthur HM. Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. Laboratory Investigation 2009, 89(1), 15-25.
- Borthwick GM, Johnson AS, Partington M, Burn J, Wilson R, Arthur HM. Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism. The FASEB Journal 2006, 20(12), 2009-2016.
- Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, Ince PG, Turnbull DM. Motor neuron disease in a patient with a mitochondrial tRNAlle mutation. Annals of Neurology 2006, 59(3), 570-574.
- Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. Journal of Clinical Investigation 2003, 112(9), 1351-1360.
- Lynn S, Borthwick GM, Charnley RM, Walker M, Turnbull DM. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia 2003, 46(2), 296-299.
- He LP, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Research 2002, 30(14), e68.
- Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Role of mitochondrial DNA mutations in disease and aging. Annals of the New York Academy of Sciences 2000, 908(1), 199-207.
- Taylor RW, Wardell TM, Blakely EL, Borthwick GM, Brierley EJ, Turnbull DM. Analysis of Mitochondrial DNA Mutations. Methods in Molecular Medicine: Aging Methods and Protocols 2000, 38, 245-264.
- Borthwick GM, Johnson MA, Ince PG, Shaw PJ, Turnbull DM. Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death. Annals of Neurology 1999, 46(5), 787-790.
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Book Chapter
- Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Mitochondrial DNA mutations in disease and ageing. In: G Bock, JA Goode, ed. Ageing Vulnerability: Causes and Interventions. Chichester, UK: John Wiley & Sons, Ltd, 2001, pp.234-246.
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Letter
- Sowter P, Santibanez-Koref M, Jackson MS, Borthwick GM, Burn J, Rajan N, Gallon R. Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome-associated tumours’. British Journal of Dermatology 2022, 186(5), 913-914.
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Reviews
- Ahadova A, Witt J, Haupt S, Gallon R, Hüneburg R, Nattermann J, Ten Broeke S, Bohaumilitzky L, Hernandez-Sanchez A, Santibanez-Koref M, Jackson MS, Ahtiainen M, Pylvänäinen K, Andini K, Grolmusz VK, Möslein G, Dominguez-Valentin M, Møller P, Fürst D, Sijmons R, Borthwick GM, Burn J, Mecklin JP, Heuveline V, von Knebel Doeberitz M, Seppälä T, Kloor M. Is HLA type a possible cancer risk modifier in Lynch syndrome?. International Journal of Cancer 2023, 152(10), 2024-2031.
- Gallon R, Gawthorpe P, Phelps RL, Hayes C, Borthwick GM, Santibanez-Koref M, Jackson MS, Burn J. How should we test for Lynch syndrome? A review of current guidelines and future strategies. Cancers 2021, 13(3), 406.