Dr. Mauro Santibanez-Koref
Senior Lecturer, Newcastle University Biosciences Institute
Dr. Mauro Santibanez-Koref
My research focus includes modulation of gene expression by inherited factors, genomic variability in normal tissues, and the links between both. This encompasses interests in DNA damage and repair processes, integration of information from different sources including population data and data from high throughput phenotyping and genotyping, as well as the methodology required for their analysis and interpretation.
Langton DJ, Bourke SC, Lie BA, Reiff G, Natu S, Darlay R, Burn J, Echevarria C. The influence of HLA genotype on the severity of COVID-19 infection. HLA. 2021 Jul;98(1):14-22. doi: 10.1111/tan.14284. Epub 2021 May 4.
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 (Basel). 2021 Jan 22;13(3):406.
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä T, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT; CAPP2 Investigators. 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. Lancet. 2020 Jun 13;395(10240):1855-1863.
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. Hum Mutat. 2020 Jan;41(1):332-341.
Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso 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. Hum Mutat. 2019 May;40(5):649-655.
Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT; CAPP2 Investigators. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet. 2011 Dec 17;378(9809):2081-7.