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Items: 1 to 50 of 203

1.

Thyroid carcinomas that occur in familial adenomatous polyposis patients recurrently harbor somatic variants in APC, BRAF, and KTM2D.

Nieminen TT, Walker CJ, Olkinuora A, Genutis LK, O'Malley M, Wakely PE Jr, LaGuardia L, Koskenvuo L, Arola J, Lepisto A, Brock P, Yilmaz AS, Eisfeld AK, Church J, Peltomaki P, de la Chapelle A.

Thyroid. 2020 Feb 5. doi: 10.1089/thy.2019.0561. [Epub ahead of print]

PMID:
32024448
2.

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.

Engel C, Ahadova A, Seppälä T, Aretz S, Bigirwamungu-Bargeman M, Bläker H, Bucksch K, Büttner R, de Vos Tot Nederveen Cappel W, Endris V, Holinski-Feder E, Holzapfel S, Hüneburg R, Jacobs MAJM, Koornstra JJ, Langers AM, Lepistö A, Morak M, Möslein G, Peltomäki P, Pylvänäinen K, Rahner N, Renkonen-Sinisalo L, Schulmann K, Steinke-Lange V, Stenzinger A, Strassburg CP, van de Meeberg PC, van Kouwen M, van Leerdam M, Vangala DB, Vecht J, Verhulst ML, von Knebel Doeberitz M, Weitz J, Zachariae S, Loeffler M, Mecklin JP, Kloor M, Vasen HF; German HNPCC Consortium, the Dutch Lynch Syndrome Collaborative Group, and the Finnish Lynch Syndrome Registry.

Gastroenterology. 2020 Jan 8. pii: S0016-5085(20)30014-7. doi: 10.1053/j.gastro.2019.12.032. [Epub ahead of print]

PMID:
31926173
3.

Response to Yang et al.

Olkinuora A, Nieminen TT, Nordling M, Peltomäki P.

Genet Med. 2019 Nov;21(11):2652-2653. doi: 10.1038/s41436-019-0530-1. Epub 2019 May 2. No abstract available.

PMID:
31043712
4.

DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Mäki-Nevala S, Valo S, Ristimäki A, Sarhadi V, Knuutila S, Nyström M, Renkonen-Sinisalo L, Lepistö A, Mecklin JP, Peltomäki P.

EBioMedicine. 2019 Jan;39:280-291. doi: 10.1016/j.ebiom.2018.12.018. Epub 2018 Dec 18.

5.

Epidemiological, clinical and molecular characterization of Lynch-like syndrome: A population-based study.

Porkka N, Lahtinen L, Ahtiainen M, Böhm JP, Kuopio T, Eldfors S, Mecklin JP, Seppälä TT, Peltomäki P.

Int J Cancer. 2019 Jul 1;145(1):87-98. doi: 10.1002/ijc.32085. Epub 2019 Jan 7.

PMID:
30575961
6.

Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.

Olkinuora A, Nieminen TT, Mårtensson E, Rohlin A, Ristimäki A, Koskenvuo L, Lepistö A; Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Gebre-Medhin S, Nordling M, Peltomäki P.

Genet Med. 2019 Aug;21(8):1868-1873. doi: 10.1038/s41436-018-0405-x. Epub 2018 Dec 21.

7.

Converging endometrial and ovarian tumorigenesis in Lynch syndrome: Shared origin of synchronous carcinomas.

Niskakoski A, Pasanen A, Porkka N, Eldfors S, Lassus H, Renkonen-Sinisalo L, Kaur S, Mecklin JP, Bützow R, Peltomäki P.

Gynecol Oncol. 2018 Jul;150(1):92-98. doi: 10.1016/j.ygyno.2018.04.566. Epub 2018 Apr 30.

8.

Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer.

Pussila M, Törönen P, Einarsdottir E, Katayama S, Krjutškov K, Holm L, Kere J, Peltomäki P, Mäkinen MJ, Linden J, Nyström M.

Carcinogenesis. 2018 May 28;39(6):788-797. doi: 10.1093/carcin/bgy056.

9.

Molecular changes preceding endometrial and ovarian cancer: a study of consecutive endometrial specimens from Lynch syndrome surveillance.

Niskakoski A, Pasanen A, Lassus H, Renkonen-Sinisalo L, Kaur S, Mecklin JP, Bützow R, Peltomäki P.

Mod Pathol. 2018 Aug;31(8):1291-1301. doi: 10.1038/s41379-018-0044-4. Epub 2018 Mar 27.

10.

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Porkka N, Valo S, Nieminen TT, Olkinuora A, Mäki-Nevala S, Eldfors S, Peltomäki P.

Oncotarget. 2017 Nov 14;8(64):108020-108030. doi: 10.18632/oncotarget.22445. eCollection 2017 Dec 8.

11.

Disorders of DNA repair mechanisms and their clinical significance.

Kansikas M, Nyström M, Peltomäki P.

Duodecim. 2017;133(3):259-5. Review.

PMID:
29205024
12.

Molecular Determinants of Colon Cancer Susceptibility in the East and West.

Abdel-Rahman WM, Faris ME, Peltomaki P.

Curr Mol Med. 2017;17(1):34-45. doi: 10.2174/1566524017666170220094705. Review.

PMID:
28231750
13.

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 Oct 25;7(43):70685-70698. doi: 10.18632/oncotarget.12206.

14.

MicroRNA Methylation in Colorectal Cancer.

Kaur S, Lotsari-Salomaa JE, Seppänen-Kaijansinkko R, Peltomäki P.

Adv Exp Med Biol. 2016;937:109-22. doi: 10.1007/978-3-319-42059-2_6. Review.

PMID:
27573897
15.

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, Peltomäki P.

Gastroenterol Res Pract. 2016;2016:6089658. doi: 10.1155/2016/6089658. Epub 2016 Mar 7.

16.

Update on Lynch syndrome genomics.

Peltomäki P.

Fam Cancer. 2016 Jul;15(3):385-93. doi: 10.1007/s10689-016-9882-8. Review.

17.

Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis.

Koskenvuo L, Peltomäki P, Renkonen-Sinisalo L, Gylling A, Nieminen TT, Ristimäki A, Lepistö A.

J Surg Oncol. 2016 Feb;113(2):209-12. doi: 10.1002/jso.24117. Epub 2015 Dec 10.

PMID:
26663236
18.

Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer.

Joensuu EI, Nieminen TT, Lotsari JE, Pavicic W, Abdel-Rahman WM, Peltomäki P.

Genes Chromosomes Cancer. 2015 Dec;54(12):776-87. doi: 10.1002/gcc.22289. Epub 2015 Aug 25.

PMID:
26305882
19.

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, Peltomäki P.

Clin Epigenetics. 2015 Jul 22;7:71. doi: 10.1186/s13148-015-0102-4. eCollection 2015.

20.

Identification of subgroup-specific miRNA patterns by epigenetic profiling of sporadic and Lynch syndrome-associated colorectal and endometrial carcinoma.

Kaur S, Lotsari JE, Al-Sohaily S, Warusavitarne J, Kohonen-Corish MR, Peltomäki P.

Clin Epigenetics. 2015 Mar 10;7:20. doi: 10.1186/s13148-015-0059-3. eCollection 2015.

21.

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 Dec;9(12):1577-87. doi: 10.4161/15592294.2014.983374.

22.

Reply: To PMID 24941021.

Nieminen TT, Mecklin JP, Järvinen HJ, Peltomäki P.

Gastroenterology. 2015 Jan;148(1):259. doi: 10.1053/j.gastro.2014.11.028. Epub 2014 Nov 22. No abstract available.

PMID:
25451653
23.

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, Gyenesei A, Järvinen HJ, Peltomäki P.

Genes Chromosomes Cancer. 2014 Oct;53(10):857-64. doi: 10.1002/gcc.22197. Epub 2014 Jun 20.

PMID:
24946964
24.

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition 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, Peltomäki P.

Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15.

25.

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.

26.

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. Review.

PMID:
24443998
27.

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.

Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

28.

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. doi: 10.1371/journal.pone.0076865. eCollection 2013.

29.

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 MB, Gylling A, Wenzel F, Trapani F, Altermatt HJ, Mele V, Marra G, Peltomäki P, Terracciano L, Zavolan M, Heinimann K.

Cancer Res. 2014 Jan 1;74(1):224-34. doi: 10.1158/0008-5472.CAN-13-2100. Epub 2013 Oct 24.

30.

BRAF mutation in sporadic colorectal cancer and Lynch syndrome.

Thiel A, Heinonen M, Kantonen J, Gylling A, Lahtinen L, Korhonen M, Kytölä S, Mecklin JP, Orpana A, Peltomäki P, Ristimäki A.

Virchows Arch. 2013 Nov;463(5):613-21. doi: 10.1007/s00428-013-1470-9. Epub 2013 Aug 21.

PMID:
23963522
31.

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.

32.

Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study.

Aktan-Collan K, Kääriäinen H, Järvinen H, Peltomäki P, Pylvänäinen K, Mecklin JP, Haukkala A.

Fam Cancer. 2013 Dec;12(4):639-46. doi: 10.1007/s10689-013-9628-9.

PMID:
23512527
33.

The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.

Plazzer JP, Sijmons RH, Woods MO, Peltomäki P, Thompson B, Den Dunnen JT, Macrae F.

Fam Cancer. 2013 Jun;12(2):175-80. doi: 10.1007/s10689-013-9616-0.

PMID:
23443670
34.

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. doi: 10.3748/wjg.v18.i29.3896.

35.

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.

36.

Uroepithelial and kidney carcinoma in Lynch syndrome.

Aarnio M, Säily M, Juhola M, Gylling A, Peltomäki P, Järvinen HJ, Mecklin JP.

Fam Cancer. 2012 Sep;11(3):395-401. doi: 10.1007/s10689-012-9526-6.

PMID:
22476430
37.

[Epigenetic modifications in cancer].

Tieva A, Peltomäki P.

Duodecim. 2012;128(1):62-71. Review. Finnish.

PMID:
22312828
38.

Epigenetic events in endometrial tumorigenesis.

Peltomäki P, Bützow R.

Epigenomics. 2011 Dec;3(6):691. No abstract available.

PMID:
22232809
39.

Endometriosis as an epigenetic disease.

Peltomäki P, Bützow R.

Epigenomics. 2011 Dec;3(6):690-1. No abstract available.

PMID:
22232808
40.

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. doi: 10.1007/s00109-011-0854-z. Epub 2012 Jan 8.

41.

Mutations and epimutations in the origin of cancer.

Peltomäki P.

Exp Cell Res. 2012 Feb 15;318(4):299-310. doi: 10.1016/j.yexcr.2011.12.001. Epub 2011 Dec 13. Review.

PMID:
22182599
42.

Potential role of a navigator gene NAV3 in colorectal cancer.

Carlsson E, Ranki A, Sipilä L, Karenko L, Abdel-Rahman WM, Ovaska K, Siggberg L, Aapola U, Ässämäki R, Häyry V, Niiranen K, Helle M, Knuutila S, Hautaniemi S, Peltomäki P, Krohn K.

Br J Cancer. 2012 Jan 31;106(3):517-24. doi: 10.1038/bjc.2011.553. Epub 2011 Dec 15.

43.

Pathogenesis of endometriosis and its relationship to gynecological cancers.

Peltomäki P, Bützow R.

Epigenomics. 2011 Dec;3(6):689-90. doi: 10.2217/epi.11.96. No abstract available.

44.

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. doi: 10.1158/1055-9965.EPI-11-0662. Epub 2011 Oct 25.

45.

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. doi: 10.1053/j.gastro.2011.03.063. Epub 2011 Jun 1. No abstract available.

PMID:
21640116
46.
47.

Reducing the risk of type 2 diabetes with nutrition and physical activity - efficacy and implementation of lifestyle interventions in Finland.

Lindström J, Absetz P, Hemiö K, Peltomäki P, Peltonen M.

Public Health Nutr. 2010 Jun;13(6A):993-9. doi: 10.1017/S1368980010000960.

PMID:
20513271
48.

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Velho S, Oliveira C, Paredes J, Sousa S, Leite M, Matos P, Milanezi F, Ribeiro AS, Mendes N, Licastro D, Karhu A, Oliveira MJ, Ligtenberg M, Hamelin R, Carneiro F, Lindblom A, Peltomaki P, Castedo S, Schwartz S Jr, Jordan P, Aaltonen LA, Hofstra RM, Suriano G, Stupka E, Fialho AM, Seruca R.

Hum Mol Genet. 2010 Feb 15;19(4):697-706. doi: 10.1093/hmg/ddp536. Epub 2009 Dec 2.

49.

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 JP, Bützow R, Peltomäki P.

Clin Cancer Res. 2009 Sep 15;15(18):5772-83. doi: 10.1158/1078-0432.CCR-09-0506. Epub 2009 Sep 1.

50.

Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members.

Järvinen HJ, Renkonen-Sinisalo L, Aktán-Collán K, Peltomäki P, Aaltonen LA, Mecklin JP.

J Clin Oncol. 2009 Oct 1;27(28):4793-7. doi: 10.1200/JCO.2009.23.7784. Epub 2009 Aug 31.

PMID:
19720893

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