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Païvi Peltomäki

University of Helsinki

77H-index
294Paper Count
3.3WCitation Count
Published Papers 96
Publication Date
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps
err2026-02-01
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errOAAI
errTaina T. Nieminen; Outi Kuismin; Riitta Laine; Anna Lepistö; Laura Koskenvuo; Laura Renkonen-Sinisalo; Markus J. Mäkinen; Ari Ristimäki; Jukka-Pekka Mecklin; Päivi Peltomäki
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Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome
err2025-08-07
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errOAAI
errAnni K. Kauppinen; Alisa P. Olkinuora; Jukka-Pekka Mecklin; Päivi T. Peltomäki
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Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis
err2024-05-01
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errOAAI
errPussila, Marjaana; Laiho, Aleksi; Toronen, Petri; Bjorkbacka, Pauliina; Nykaenen, Sonja; Pylvaenaeinen, Kirsi; Holm, Liisa; Mecklin, Jukka-Pekka; Renkonen-Sinisalo, Laura; Lehtonen, Taru; Lepisto, Anna; Linden, Jere; Maki-Nevala, Satu; Peltomaki, Paivi; Nystrom, Minna
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PDPR Gene Variants Predisposing to Papillary Thyroid Cancer
errTHYROID
IF6.7
err2024-05-01
err2
PREAI
errBrock, Pamela; Sevigny, Myriam; Liyanarachchi, Sandya; Comiskey Jr, Daniel F.; Li, Wei; Saarinen, Saila; Yilmaz, Ayse Selen; Nieminen, Anni I.; Ringel, Matthew D.; Peltomaeki, Paeivi; Ollila, Saara; Nieminen, Taina T.
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Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors
err2024-04-25
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errOAAI
errOlkinuora, Alisa; Maki-Nevala, Satu; Ukwattage, Sanjeevi; Ristimaki, Ari; Ahtiainen, Maarit; Mecklin, Jukka-Pekka; Peltomaki, Paivi
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Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia
errLEUKEMIA
IF13.4
err2023-09-11
err1
errOAAI
errOlkinuora, Alisa; Nieminen, Taina T.; Douglas, Suvi; Kauppinen, Anni; Kontro, Mika; Vaananen, Juho; Kankainen, Matti; Ristimaki, Ari; Makinen, Markus; Lahermo, Paivi; Heckman, Caroline; Saarela, Janna; Salonen, Milla; Lepisto, Anna; Jarvinen, Heikki; Mecklin, Jukka-Pekka; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla; Porkka, Kimmo; Peltomaki, Paeivi
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Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
err2023-04-01
err30
errOAAI
errDominguez-Valentin, Mev; Haupt, Saskia; Seppala, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Debniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lor H.; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S.; Horisberger, Karoline; Tibiletti, Maria Grazia; do Nascimento, Ivana; Thomas, Huw; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Zarand, Attila; Ruiz-Banobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistoe, Anna; Peltomaeki, Paeivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Schroeck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; Redler, Silke; Buettner, Reinhard; Weitz, Jurgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sanchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Advani, Suresh H.; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pal
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Lynch Syndrome Genetics and Clinical Implications
err2023-04-01
err42
errOAAI
errPeltomaeki, Paeivi; Nystroem, Minna; Mecklin, Jukka-Pekka; Seppala, Toni T.
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Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents
err2022-10-28
err3
errOAAI
errOlkinuora, Alisa Petriina; Mayordomo, Andrea Constanza; Kauppinen, Anni Katariina; Cerliani, Maria Belen; Coraglio, Mariana; Collia, Avila Karina; Gutierrez, Alejandro; Alvarez, Karin; Cassana, Alessandra; Lopez-Koestner, Francisco; Jauk, Federico; Garcia-Rivello, Hernan; Ristimaeki, Ari; Koskenvuo, Laura; Lepistoe, Anna; Nieminen, Taina Tuulikki; Vaccaro, Carlos Alberto; Pavicic, Walter Hernan; Peltomaeki, Paeivi
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Gene fusions and oncogenic mutations in MLH1 deficient and BRAFV600E wild-type colorectal cancers
err2022-03-03
err14
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errUkkola, Iiris; Nummela, Pirjo; Kero, Mia; Tammio, Hanna; Tuominen, Jenni; Kairisto, Veli; Kallajoki, Markku; Haglund, Caj; Peltomaki, Paivi; Kytola, Soili; Ristimaki, Ari
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From APC to the genetics of hereditary and familial colon cancer syndromes
err2021-07-30
err22
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errOlkinuora, Alisa P.; Peltomaki, Paivi T.; Aaltonen, Lauri A.; Rajamaki, Kristiina
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
err2021-06-28
err13
errOAAI
errDominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Juergen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moslein, Gabriela; Seppala, Toni T.; Moller, Pal
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Somatic mutation profiles as molecular classifiers of ulcerative colitis-associated colorectal cancer
err2021-02-13
err11
errOAAI
errMaki-Nevala, Satu; Ukwattage, Sanjeevi; Olkinuora, Alisa; Almusa, Henrikki; Ahtiainen, Maarit; Ristimaki, Ari; Seppala, Toni; Lepisto, Anna; Mecklin, Jukka-Pekka; Peltomaki, Paivi
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Updates in the field of hereditary nonpolyposis colorectal cancer
err2020-08-05
err19
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errPeltomaki, Paivi; Olkinuora, Alisa; Nieminen, Taina T.
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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
err2020-04-01
err61
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errEngel, Christoph; Ahadova, Aysel; Seppala, Toni T.; Aretz, Stefan; Bigirwamungu-Bargeman, Marloes; Blaeker, Hendrik; Bucksch, Karolin; Buettner, Reinhard; Cappel, Wouter T. De Vos Tot Nederveen; Endris, Volker; Holinski-Feder, Elke; Holzapfel, Stefanie; Hueneburg, Robert; Jacobs, Maarten A. J. M.; Koornstra, Jan J.; Langers, Alexandra M.; Lepisto, Anna; Morak, Monika; Moeslein, Gabriela; Peltomaeki, Paivi; Pylvaenaeinen, Kirsi; Rahner, Nils; Renkonen-Sinisalo, Laura; Schulmann, Karsten; Steinke-Lange, Verena; Stenzinger, Albrecht; Strassburg, Christian P.; van de Meeberg, Paul C.; van Kouwen, Mariette; van Leerdam, Monique; Vangala, Deepak B.; Vecht, Juda; Verhulst, Marie-Louise; Doeberitz, Magnus von Knebel; Weitz, Juergen; Zachariae, Silke; Loeffler, Markus; Mecklin, Jukka-Pekka; Kloor, Matthias; Vasen, Hans F.
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Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in APC, BRAF, and KTM2D
errTHYROID
IF6.7
err2020-03-01
err20
errOAAI
errNieminen, Taina T.; Walker, Christopher J.; Olkinuora, Alisa; Genutis, Luke K.; O'Malley, Margaret; Wakely, Paul E., Jr.; LaGuardia, Lisa; Koskenvuo, Laura; Arola, Johanna; Lepisto, Anna H.; Brock, Pamela; Yilmaz, Ayse Selen; Eisfeld, Ann-Kathrin; Church, James M.; Peltomaki, Paivi; de la Chapelle, Albert
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Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition
err2019-08-01
err43
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errOlkinuora, Alisa; Nieminen, Taina T.; Martensson, Emma; Rohlin, Anna; Ristimaki, Ari; Koskenvuo, Laura; Lepisto, Anna; Gebre-Medhin, Samuel; Nordling, Margareta; Peltomaki, Paivi; Silander, Gustav; Kuchinskaya, Ekaterina; Aravidis, Christos; Zagoras, Theofan S.; Nilbert, Mef; Borg, Ake
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Multiple rare germline variants in a thyroid cancer family
err2019-07-01
err0
PREAI
errNieminen, Taina T.; Comiskey, Daniel F.; Wang, Yanqiang; Liyanarachchi, Sandya; Brock, Pamela; Peltomaki, Paivi; He, Huiling; de la Chapelle, Albert
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Epidemiological, clinical and molecular characterization of Lynch-like syndrome: A population-based study
err2019-01-07
err35
errOAAI
errPorkka, Noora; Lahtinen, Laura; Ahtiainen, Maarit; Bohm, Jan P.; Kuopio, Teijo; Eldfors, Samuli; Mecklin, Jukka-Pekka; Seppala, Toni T.; Peltomaki, Paivi
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