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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.
Kansikas M, Vähätalo L, Kantelinen J, Kasela M, Putula J, Døhlen A, Paloviita P, Kärkkäinen E, Lahti N, Arnez P, Kilpinen S, Alcala-Repo B, Pylvänäinen K, Pöyhönen M, Peltomäki P, Järvinen HJ, Seppälä TT, Renkonen-Sinisalo L, Lepistö A, Mecklin JP, Nyström M. Kansikas M, et al. Among authors: kantelinen j. Cancer Res Commun. 2023 Mar 2;3(3):361-370. doi: 10.1158/2767-9764.CRC-22-0384. eCollection 2023 Mar. Cancer Res Commun. 2023. PMID: 36875157 Free PMC article.
Human DNA polymerase α interacts with mismatch repair proteins MSH2 and MSH6.
Itkonen HM, Kantelinen J, Vaara M, Parkkinen S, Schlott B, Grosse F, Nyström M, Syväoja JE, Pospiech H. Itkonen HM, et al. Among authors: kantelinen j. FEBS Lett. 2016 Dec;590(23):4233-4241. doi: 10.1002/1873-3468.12475. Epub 2016 Nov 16. FEBS Lett. 2016. PMID: 27805738 Free article.
MutSbeta exceeds MutSalpha in dinucleotide loop repair.
Kantelinen J, Kansikas M, Korhonen MK, Ollila S, Heinimann K, Kariola R, Nyström M. Kantelinen J, et al. Br J Cancer. 2010 Mar 16;102(6):1068-73. doi: 10.1038/sj.bjc.6605531. Epub 2010 Feb 16. Br J Cancer. 2010. PMID: 20160730 Free PMC article.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
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. Tricarico R, et al. Among authors: kantelinen j. Hum Mutat. 2017 Jan;38(1):64-77. doi: 10.1002/humu.23117. Epub 2016 Oct 17. Hum Mutat. 2017. PMID: 27629256 Free article.