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Kasela M, Nyström M, Kansikas M. PMS2 expression decrease causes severe problems in mismatch repair. Hum Mutat 40: 904- 907, 2019.
Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P., Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi, M. & InSiGHT Variant Interpretation Committee. Assessment of the InSiGHT interpretation criteria for the clinical classification of 24 MLH1 and MSH2 gene variants. Hum Mutat 38: 64-77, 2016
Kansikas M, Kasela M, Kantelinen J, Nyström M. Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency. Hum Mutat 35:1123-1127, 2014.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet 46: 107-15, 2014.
Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M. Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Hum Mutat 33: 1294-1301, 2012.
Kantelinen J, Hansen TVO, Kansikas M, Nylandsted Krogh L, Korhonen MK, Ollila S, Nyström M, Gerdes A-M, Kariola R. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance – functional analysis reveals the pathogenic one. Fam Cancer 10: 515-520, 2011.
Kansikas M, Kariola R, Nyström M. Verification of the Three Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants. Hum Mutat 32: 107-115, 2011.
Ollila, S, Dermadi Bebek D, Jiricny J, Nyström M. Mechanisms of pathogenicity in human MSH2 missense mutants. Hum Mutat 29: 1355-1363, 2008.
Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes A-M, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M. Pathogenicity of MSH2 Missense Mutations is Typically Associated with Impaired Repair Capability of the Mutated Protein. Gastroenterology 131: 1408-1417, 2006.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes A-M, Peltomäki P, Kohonen-Corish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, and Nyström M. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549, 2005.
Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, and Nyström-Lahti M. MSH6 missense mutations are often associated with no or low cancer susceptibility. Brit J Cancer 91: 1287-1292, 2004.
Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RMW, Nyström-Lahti M. Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic? Hum Genet 112: 105-109, 2003.
Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M. Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome. Hum Mol Genet 11: 1303-1310, 2002.
Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D’Urso M, Venuta S, Jiricny J. Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. Genes, Chromosomes & Cancer 33: 160-167, 2002.
Schweizer P, Moisio A-L, Kuismanen SA, Truninger K, Vierumäki R, Salovaara R, Arola J, Butzow R, Jiricny J, Peltomäki P, Nyström-Lahti M. Lack of MSH2 and MSH6 characterizes endometrial but not colon carsinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 61: 2813-2815, 2001.
Nyström-Lahti M, Wu Y, Moisio A-L, Hofstra RMW, Osinga J, Mecklin J-P, Järvinen HJJ, Leisti J, Buys CHCM, de la Chapelle A, Peltomäki P: DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet 5:763-769, 1996.
Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B: Mutations of a MutS homolog in hereditary non-polyposis colorectal cancer. Cell 75: 1215-1225, 1993.
Jiricny J & Nyström-Lahti M. Mismatch repair defects in cancer. Current Opinion in Genetis & Development 10: 157-161, 2000.
Nyström, M. & Kansikas, M. (2013) DNA Alterations in Lynch Syndrome. Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance. DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counseling. Vogelsang, M. (ed.). Springer, p. 85-100.
Nyström, M. & Kansikas, M. (2017) Predictive cancer diagnostics: LS CancerDiag Ltd has developed DiagMMR, an innovative method to detect cancer syndrome before cancers form. Pan European Networks, Health 02:164-165.
StartUp Health: 8 Startups That Are Ending Cancer As We Know It.
Website of Professor Nyström’s research group:
DNA Mismatch Repair and Cancer | University of Helsinki.
