Browsing Det matematisk-naturvitenskapelige fakultet by Author "Katz, Lior"

Now showing items 1-2 of 2

  • 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; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos Alberto; 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; Doeberitz, Magnus von Knebel; 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 A.; Pavicic, Walter Hernán; Kalfayan, Pablo; Ten Broeke, Sanne W.; 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; Le Marchand, Loic; 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 (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ...
  • Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report 
    Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; MacRae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauß, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Gonzalez, María Laura; Kalfayan, Pablo; Ryan, Neil; ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; de Vos tot Nederveen Cappel, Wouter H.; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Büttner, Reinhard; Görgens, Heike; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rødland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppälä, Toni T.; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    Abstract Purpose To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR ( path_MMR ...