PUBLICATIONS

Western Diet Deregulates Bile Acid Homeostasis, Cell Proliferation, and Tumorigenesis in Colon. Dermadi D, Valo S, Ollila S, Soliymani R, Sipari N, Pussila M, Sarantaus L, Linden J, Baumann M and Nyström M. Cancer Res; 77(12); 3352–63. 2017 AACR. PMID: 28416481

DNA:n korjausmekanismien häiriöt ja niiden lääketieteellinen merkitys. Kansikas M, Nyström M, Peltomäki P. Duodecim, 2017. http://www.duodecimlehti.fi/lehti/2017/3/duo13542

Western diet enhances intestinal tumorigenesis in Min/+ mice, associating with mucosal metabolic and inflammatory stress and loss of Apc heterozygosity. Niku M, Pajari AM, Sarantaus L, Päivärinta E, Storvik M, Heiman-Lindh A, Suokas S, Nyström M, Mutanen M. J Nutr Biochem. 2016. PMID: 27833053

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. FEBS Letters, 2016. PMID: 27805738

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; InSiGHT Variant Interpretation Committee. Hum Mutat. 2016, PMID: 27629256

Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis. Nieminen TT, Pavicic W, Porkka N, Kankainen M, Järvinen HJ, Lepistö A, Peltomäki P. Oncotarget, 2016. PMID: 27683109

Epigenetic Mechanisms in Lynch Syndrome. Nieminen TT, Niskakoski A, and Peltomäki Päivi. In: eLS. John Wiley & Sons, Ltd: Chichester, 2016. DOI:10.1002/9780470015902.a0026560

The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated Transcription. Abdel-Rahman WM, Lotsari-Salomaa JE, Kaur S, Niskakoski A, Knuutila S, Järvinen H, Mecklin JP and Peltomäki P. Gastroenterol Res Pract, 2016. PMID: 27047543

Update on Lynch syndrome genomics. Peltomäki P. Fam Cancer, 2016. PMID: 26873718

Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer. Joensuu EI, Nieminen TT, Lotsari JE, Pavicic W, Abdel-Rahman WM and Peltomäki P. Genes Chromosomes Cancer, 2015. PMID: 26305882

DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas. Valo S, Kaur S, Ristimäki A, Renkonen-Sinisalo L, Järvinen H, Mecklin JP, Nyström M and Peltomäki P. Clin Epigenetics, 2015. PMID:26203307

Identification of subgroup-specific miRNA patterns by epigenetic profiling of sporadic and Lynch syndrome-associated colorectal and endometrial carcinoma. Kaur S, Lotsari J, Al-Sohaily S, Warusavitarne J, Kohonen-Corish M and Peltomäki P. Clin Epigenetics, 2015. PMID: 25767621

Epigenetic analysis of sporadic and Lynch-associated ovarian cancers reveals histology-specific patterns of DNA methylation. Niskakoski A, Kaur S, Staff S, Renkonen-Sinisalo L, Lassus H, Järvinen HJ, Mecklin JP, Bützow R, Peltomäki P. Epigenetics, 2014. PMID: 25625843

Inherited cancer predisposition sensitizes colonic mucosa to address Western diet effects and putative cancer-predisposing changes on mouse proteome. Đermadi Bebek D, Valo S, Pussila M, Reyhani N, Sarantaus L, Lalowski M, Baumann M, Nyström M. The Journal of Nutritional Biochemistry, 2014. PMID:2517263

Assessing How Reduced Expression Levels of the Mismatch Repair Genes MLH1, MSH2 and MSH6 Affect Repair Efficiency. Kansikas M, Kasela M, Kantelinen J, Nyström M. Hum Mutat.  2014. doi: 10.1002/humu.22605. PMID: 24924810

Promoter-Specific Alterations of APC are a Rare Cause for Mutation-Negative Familial Adenomatous Polyposis. Pavicic W, Nieminen TT, Gylling A, Pursiheimo JP, Laiho A, Gyenesel A, Järvinen HJ and Peltomäki P. Genes, Chromosomes and Cancer, 2014. PMID:24946964

Germline mutation of RPS20, a ribosomal protein gene, predisposes to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Nieminen TT, O’Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, and Peltomäki P. Gastroenterology, 2014. PMID: 24941021

Loss of p15INK⁴b expression in colorectal cancer is linked to ethnic origin.
Abdel-Rahman WM, Nieminen TT, Shoman S, Eissa S, Peltomaki P. Asian Pac J Cancer Prev. 2014;15(5):2083-7. PMID: 24716938

Epigenetic mechanisms in the pathogenesis of Lynch syndrome. Peltomäki P.
Clin Genet. 2014 May;85(5):403-12. doi: 10.1111/cge.12349. Epub 2014 Feb 17.
PMID: 24443998

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; InSiGHT. Nat Genet. 2014 Feb;46(2):107-15. doi: 10.1038/ng.2854. Epub 2013 Dec 22. PMID: 24362816

DNA Alterations in Lynch Syndrome. Functional Analyses Help to Assess the Pathogenicity of MMR Gene Variants of Uncertain Significance. Nyström, M. & Kansikas, M. 2013 DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling. Vogelsang, M. Springer.

Cancer-predicting gene expression changes in colonic mucosa of Western diet fed Mlh1+/- mice. Pussila M, Sarantaus L, Dermadi Bebek D, Valo S, Reyhani N, Ollila S, Päivärinta E, Peltomäki P, Mutanen M, Nyström M. PLoS One. 2013 Oct 8;8(10):e76865. PMID: 24204690

3’UTR poly(T/U) tract deletions and altered expression of EWSR1 are a hallmark of mismatch repair deficient cancers. Kishore S, Piscuoglio S, Kovac M, Gylling A, Wenzel F, Trapani F, Altermatt H, Mele V, Marra G, Peltomäki P, Terraciano L, Zavolan M, Heinimann K. 2014 Jan 1;74(1):224-34. PMID: 24158095

BRAF mutation in sporadic colorectal cancer and Lynch syndrome. Thiel A, Heinonen M, Kantonen J, Gylling A, Lahtinen L, Korhonen M, Kytölä S, Mecklin J-P, Orpana A, Peltomäki P, Ristimäki A.Virchows Arch 463: 613-621 (2013). PMID: 23963522

Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas. Niskakoski A, Kaur S, Renkonen-Sinisalo L, Lassus H, Järvinen HJ, Mecklin JP, Bützow R, Peltomäki P. Int J Cancer. 2013 Dec 1;133(11):2596-608. doi: 10.1002/ijc.28287. Epub 2013 Jun 21. PMID: 23716351

Agenesis of the corpus callosum and gray matter heteropia in three patients with constitutional mismatch repair deficiency syndrome. Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernsted A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K. Eur J Hum Genet. 2013 Jan; 21(1):55-61. doi: 10.1038/ejhg.2012.117. PMID: 22692065

Uroepithelial and kidney carcinoma in Lynch syndrome. Aarnio M, Säily M, Juhola M, Gylling A, Peltomäki P, Järvinen HJ, Mecklin J-P.  Fam Cancer. 2012 Sep;11(3):395-401. PMID: 22476430

Differential roles of EPS8 in carcinogenesis: loss of protein expression in a subset of colorectal carcinoma and adenoma. Abdel-Rahman WM, Ruosaari S, Knuutila S, Peltomäki P. World J Gastroenterol. 2012 Aug 7;18(29):3896-903. PMID: 22876043

Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. Lotsari JE, Gylling A, Abdel Rahman WM, Nieminen TT, Aittomäki K, Friman M, Pitkänen R, Aarnio M, Järvinen HJ, Mecklin JP, Kuopio T, Peltomäki P. Breast Cancer Res. 2012 Jun 12;14(3):R90.
PMID: 22691310

Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. Kantelinen J, Kansikas M, Candelin S, Hampel H, Smith B, Holm L, Kariola R, Nyström M. Hum Mutat. 2012 Aug;33(8):1294-301. PMID: 22581703

Functional characterization of MLH1 missense variants identified in Lynch Syndrome patients. Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ. Hum Mutat 33: 1647-1655, 2012. PMID: 22753075

LINE-1 hypomethylation in familial and sporadic cancer. Pavicic W, Joensuu EI, Nieminen T, Peltomäki P. J Mol Med (Berl). 2012 Jul;90(7):827-35. PMID: 22228215

Mutations and epimutations in the origin of cancer. Peltomäki P. Exp Cell Res. 2012 Feb 15;318(4):299-310 Review. PMID: 22182599

Epigeneettiset muutokset syövässä (Epigenetic modifications in cancer). Tieva A, Peltomäki P. Duodecim 128: 62 – 71 (2012). PMID: 22312828

Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic origin. Nieminen TT, Shoman S, Eissa S, Peltomäki P, Abdel-Rahman WM.
Cancer Epidemiol Biomarkers Prev. 2012 Jan;21(1):202-11. PMID: 22028395

Mutations and epimutations in the origin of cancer. Peltomäki P. Exp Cell Res 2012: 318: 299 – 310. PMID: 22182599

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one. Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R.
Fam Cancer. 2011 Sep;10(3):515-20. PMID: 21431882

BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Nieminen TT, Abdel-Rahman WM, Ristimäki A, Lappalainen M, Lahermo P, Mecklin JP, Järvinen HJ, Peltomäki P. Gastroenterology. 2011 Jul;141(1):e23-6. PMID: 21640116

Altered methylation at microRNA-associated CpG islands in hereditary and sporadic carcinomas: a methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)-based approach. Pavicic W, Perkiö E, Kaur S, Peltomäki P. Mol Med. 2011;17(7-8):726-35. PMID: 21327300

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. Kansikas M, Kariola R, Nyström M. Hum Mutat. 2011 Jan;32(1):107-15. PMID: 21120944

Brain tumors and the Lynch syndrome. Peltomäki P, Gylling A. Management of CNS tumors, M. Garami (Ed.), InTech (2011), pp. 363 – 382. ISBN 978-953-307-646-1.

Research Highlights for “Pathogenesis of endometriosis and relationship to gynecological cancers”; “Endometriosis as an epigenetic disease”; “Epigenetic events in endometrial tumorigenesis”. Epigenomics 3: 689 – 691 (2011). PMID: 22126288

MutSbeta exceeds MutSalpha in dinucleotide loop repair. Kantelinen J, Kansikas M, Korhonen MK, Ollila S, Heinimann K, Kariola R, Nyström M. Br J Cancer. 2010 Mar;102(6):1068-73. PMID: 20160730

Novel mechanisms of hereditary susceptibility to common human cancers. Trends in Cancer Research. 6:1-13 (2010).

Molecular analysis of endometrial tumorigenesis: importance of
complex hyperplasia regardless of atypia. Nieminen TT, Gylling A, Abdel-Rahman WM,
Nuorva K, Aarnio M, Renkonen-Sinisalo L, Järvinen HJ, Mecklin J-P, Butzow R,
Peltomäki P. Clin Cancer Res. 2009 15: 5772 – 5783. PMID: 19723644