Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents
Olkinuora, Alisa Petriina, Mayordomo, Andrea Constanza, Kauppinen, Anni Katariina, Cerliani, María Belén, Coraglio, Mariana, Collia, Ávila Karina, Gutiérrez, Alejandro, Alvarez, Karin, Cassana, Alessandra, Lopéz-Köstner, Francisco, Jauk, Federico, García-Rivello, Hernán, Ristimäki, Ari, Koskenvuo, Laura, Lepistö, Anna, Nieminen, Taina Tuulikki, Vaccaro, Carlos Alberto, Pavicic, Walter Hernán, Peltomäki, Päivi
Published in Frontiers in oncology (28.10.2022)
Published in Frontiers in oncology (28.10.2022)
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MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
Piñero, Tamara Alejandra, Soukarieh, Omar, Rolain, Marion, Alvarez, Karin, López-Köstner, Francisco, Torrezan, Giovana Tardin, Carraro, Dirce Maria, De Oliveira Nascimento, Ivana Lucia, Bomfim, Thaís Ferreira, Machado-Lopes, Taísa Manuela Bonfim, Freitas, Juliana Côrtes, Toralles, Maria Betânia, Sandes, Kiyoko Abe, Rossi, Benedito Mauro, Junior, Samuel Aguiar, Meira, Joanna, Dominguez-Valentin, Mev, Møller, Pål, Vaccaro, Carlos Alberto, Martins, Alexandra, Pavicic, Walter Hernán
Published in Familial cancer (01.10.2020)
Published in Familial cancer (01.10.2020)
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Promoter-specific alterations of APC are a rare cause for mutation-negative familial adenomatous polyposis
Pavicic, Walter, Nieminen, Taina T., Gylling, Annette, Pursiheimo, Juha-Pekka, Laiho, Asta, Gyenesei, Attila, Järvinen, Heikki J., Peltomäki, Päivi
Published in Genes chromosomes & cancer (01.10.2014)
Published in Genes chromosomes & cancer (01.10.2014)
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Journal Article
Methyltransferase expression and tumor suppressor gene methylation in sporadic and familial colorectal cancer
Joensuu, Emmi I., Nieminen, Taina T., Lotsari, Johanna E., Pavicic, Walter, Abdel-Rahman, Wael M., Peltomäki, Päivi
Published in Genes chromosomes & cancer (01.12.2015)
Published in Genes chromosomes & cancer (01.12.2015)
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Journal Article
Maternal ancestry and hematological cancer risk: case-control study in an Argentinean population
Cerliani, María Belén, Mayordomo, Andrea Constanza, Sanchez Dova, Anaclara, Soarez, Julieta Natalia, Fuhr Etcheverry, Josefina, Piñero, Tamara Alejandra, Cajal, Andrea Romina, Jauk, Federico, García-Rivello, Hernán, Vaccaro, Carlos Alberto, Richard, Silvina Mariel, Bravi, Claudio Marcelo, Pavicic, Walter Hernán
Published in Personalized medicine (01.05.2021)
Published in Personalized medicine (01.05.2021)
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Universal determination of microsatellite instability using BAT26 as a single marker in an Argentine colorectal cancer cohort
González, María Laura, Causada-Calo, Natalia, Santino, Juan Pablo, Dominguez-Valentin, Mev, Ferro, Fabiana Alejandra, Sammartino, Inés, Kalfayan, Pablo Germán, Verzura, Maria Alicia, Piñero, Tamara Alejandra, Cajal, Andrea Romina, Pavicic, Walter, Vaccaro, Carlos
Published in Familial cancer (01.07.2018)
Published in Familial cancer (01.07.2018)
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Journal Article
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study
Dominguez-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, de Vos Tot Nederveen Cappel, Wouter H, Sijmons, Rolf H, Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, 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, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Pavicic, Walter Hernán, Kalfayan, Pablo, Broeke, Sanne W Ten, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L, Win, Aung Ko, Buchanan, Daniel D, Lindor, Noralane M, Gallinger, Steven, Marchand, Loïc Le, Newcomb, Polly A, Figueiredo, Jane C, Thibodeau, Stephen N, Therkildsen, Christina, Hansen, Thomas V O, Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T, Møller, Pål
Published in Journal of clinical medicine (28.06.2021)
Published in Journal of clinical medicine (28.06.2021)
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Journal Article
LINE-1 hypomethylation in familial and sporadic cancer
Pavicic, Walter, Joensuu, Emmi I., Nieminen, Taina, Peltomäki, Päivi
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2012)
Published in Journal of molecular medicine (Berlin, Germany) (01.07.2012)
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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, Walter, Perkiö, Esa, Kaur, Sippy, Peltomäki, Päivi
Published in Molecular medicine (Cambridge, Mass.) (01.07.2011)
Published in Molecular medicine (Cambridge, Mass.) (01.07.2011)
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A comprehensive characterization of the spectrum of MUTYH germline pathogenic variants in Latin America
Esperon, Patricia, Neffa, Florencia, Pavicic, Walter, Spirandelli, Florencia, Alvarez, Karin, Mullins, María José, Rossi, Benedito Mauro, Góngora e Silva, Rodrigo Felipe, Vaccaro, Carlos, Lopéz-Köstner, Francisco, Rugeles, Jorge, Valle, Adriana Della, Dominguez-Valentin, Mev
Published in Familial cancer (01.11.2024)
Published in Familial cancer (01.11.2024)
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Journal Article
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
Seppala, TT, Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Hovig, E
Published in European journal of cancer (1990) (01.05.2021)
Published in European journal of cancer (1990) (01.05.2021)
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Abstract 4491: Pseudoexons may underlie unbalanced expression of APC alleles in familial adenomatous polyposis
Nieminen, Taina Tuulikki, Pavicic, Walter, Porkka, Noora, Jarvinen, Heikki J., Lepisto, Anna, Peltomaki, Paivi
Published in Cancer research (Chicago, Ill.) (15.07.2016)
Published in Cancer research (Chicago, Ill.) (15.07.2016)
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Journal Article
Cigarette smoking, dietary habits and genetic polymorphisms in GSTT1 , GSTM1 and CYP1A1 metabolic genes: A case-control study in oncohematological diseases
Cerliani, María Belén, Pavicic, Walter, Gili, Juan Antonio, Klein, Graciela, Saba, Silvia, Richard, Silvina
Published in World journal of clinical oncology (10.10.2016)
Published in World journal of clinical oncology (10.10.2016)
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Journal Article
Y chromosome instability in testicular cancer
Bianchi, Néstor O., Richard, Silvina M., Pavicic, Walter
Published in Mutation research (01.06.2006)
Published in Mutation research (01.06.2006)
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