"Pylvänäinen, Kirsi" - Selaus tekijän mukaan TUNICRIS-julkaisut
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Circulating miRNA Signature Predicts Cancer Incidence in Lynch Syndrome: A Pilot Study
Sievänen, Tero; Jokela, Tiina; Hyvärinen, Matti; Korhonen, Tia-Marje; Pylvänäinen, Kirsi; Mecklin, Jukka-Pekka; Karvanen, Juha; Sillanpää, Elina; Seppälä, Toni T.; Laakkonen, Eija K. (04.06.2024)
articleLynch syndrome (LS) is the most common autosomal dominant cancer syndrome and is characterized by high genetic cancer risk modified by lifestyle factors. This study explored whether a circulating miRNA (c-miR) signature ... -
Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer
Nikkola, Jussi; Ryyppö, Lauri; Vuorinen, Juuso; Moilanen, Lauri; Ahtiainen, Maarit; Pylvänäinen, Kirsi; Selin, Hanna; Virtanen, Tuomo; Nykter, Matti; Veitonmäki, Thea; Mecklin, Jukka Pekka; Seppälä, Toni T.; Annala, Matti (28.10.2025)
articleLynch syndrome (LS) is a hereditary condition characterized by defective DNA mismatch repair and a high incidence of several cancers. In this study, we investigate the somatic landscape of LS-associated urothelial cancer ... -
Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome
Kalamo, Mari; Mäenpää, Johanna; Seppälä, Toni; Mecklin, Jukka Pekka; Pylvänäinen, Kirsi; Staff, Synnöve (09 / 2021)
article<p>Background: Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer ... -
Integrative omics approaches to uncover liquid-based cancer-predicting biomarkers in Lynch syndrome
Kärkkäinen, Minta; Sievänen, Tero; Korhonen, Tia Marje; Tuomikoski, Joonas; Pylvänäinen, Kirsi; Äyrämö, Sami; Seppälä, Toni T.; Mecklin, Jukka Pekka; Laakkonen, Eija K.; Jokela, Tiina (2025)
articleLynch syndrome is a genetic cancer-predisposing syndrome caused by pathogenic mutations in DNA mismatch repair (path_MMR) genes. Due to the elevated cancer risk, novel screening methods, alongside current surveillance ... -
Is HLA type a possible cancer risk modifier in Lynch syndrome?
Ahadova, Aysel; Witt, Johannes; Haupt, Saskia; Gallon, Richard; Hüneburg, Robert; Nattermann, Jacob; ten Broeke, Sanne; Bohaumilitzky, Lena; Hernandez-Sanchez, Alejandro; Santibanez-Koref, Mauro; Jackson, Michael S.; Ahtiainen, Maarit; Pylvänäinen, Kirsi; Andini, Katarina; Grolmusz, Vince Kornel; Möslein, Gabriela; Dominguez-Valentin, Mev; Møller, Pål; Fürst, Daniel; Sijmons, Rolf; Borthwick, Gillian M.; Burn, John; Mecklin, Jukka Pekka; Heuveline, Vincent; von Knebel Doeberitz, Magnus; Seppälä, Toni; Kloor, Matthias (2022)
reviewarticle<p>Lynch syndrome (LS) is the most common inherited cancer syndrome. It is inherited via a monoallelic germline variant in one of the DNA mismatch repair (MMR) genes. LS carriers have a broad 30% to 80% risk of ... -
Metachronous colorectal cancer risks after extended or segmental resection in MLH1, MSH2, and MSH6 Lynch syndrome: Multicentre study from the Prospective Lynch Syndrome Database
Zalevskaja, K.; Ojala, K.; Petrov, A.; Haupt, S.; Sunde, L.; Bernstein, I.; Jenkins, M. A.; Aretz, S.; Nielsen, M.; Capella, G.; Balaguer, F.; Evans, D. G.; Burn, J.; Holinski-Feder, E.; Bertario, L.; Bonanni, B.; Lindblom, A.; Levi, Z.; MacRae, F.; Winship, I.; Plazzer, J. P.; Sijmons, R.; Laghi, L.; Della Valle, A.; Heinimann, K.; Dębniak, T.; Fruscio, R.; Lopez-Koestner, F.; Alvarez-Valenzuela, K.; Katz, L. H.; Laish, I.; Vainer, E.; Vaccaro, C.; Carraro, D. M.; Monahan, K.; Half, E.; Stakelum, A.; Winter, D.; Kennelly, R.; Gluck, N.; Sheth, H.; Abu-Freha, N.; Greenblatt, M.; Rossi, B. M.; Bohorquez, M.; Cavestro, G. M.; Lino-Silva, L. S.; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; da Silva, Leandro Apolinário; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Lindberg, Lars Joachim; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Buchanan, Daniel D.; Thibodeau, S.N.; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, S; Weitz, J.; Pineda, Marta; Duenas, Nuria; Moreira, L.; Castillo-Iturra, J.; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma J.; Mints, Miriam; Goldberg, Y.; Tjandra, Douglas; ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Shah, M.; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Pylvänäinen, Kirsi; Möslein, Gabriela; Lepistö, A.; Mecklin, J-P.; Renkonen-Sinisalo, Laura; Sampson, Julian R.; Dominguez-Valentin, Mev; Møller, P.; Seppälä, T. T. (04 / 2025)
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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
Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, 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; Dębniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior 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; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, Silke; Büttner, Reinhard; Weitz, Jürgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sánchez, 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, Pål (03 / 2023)
articleBackground: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, ... -
NOUS-209 Off-the-shelf Immunotherapy Has the Potential to Hit Primary and Metachronous Colorectal and Urothelial Cancers in Lynch Syndrome
De Marco, Lorenzo; Micarelli, Elisa; Panula, Joni; Nikkola, Jussi; Moilanen, Lauri; Annala, Matti; Härkönen, Jouni; Hokkanen, Kalle E; D'Alise, Anna Morena; Pylvänäinen, Kirsi; Peltomäki, Päivi T; Ahtiainen, Maarit; Böhm, Jan; Mecklin, Jukka-Pekka; Scarselli, Elisa; Seppälä, Toni T (02.04.2025)
articleLynch syndrome (LS) is characterized by the development of microsatellite instable (MSI) cancers that share neoantigens, offering an opportunity for targeted immunotherapy. NOUS-209 is a heterologous prime-boost cancer ... -
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity
Kansikas, Minttu; Vähätalo, Laura; Kantelinen, Jukka; Kasela, Mariann; Putula, Jaana; Døhlen, Anni; Paloviita, Pauliina; Kärkkäinen, Emmi; Lahti, Niklas; Arnez, Philippe; Kilpinen, Sami; Alcala-Repo, Beatriz; Pylvänäinen, Kirsi; Pöyhönen, Minna; Peltomäki, Päivi; Järvinen, Heikki J; Seppälä, Toni; Renkonen-Sinisalo, Laura; Lepistö, Anna; Mecklin, Jukka-Pekka; Nyström, Minna (03 / 2023)
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