Browsing Øvrige samlinger by Author "Møller, Pål"

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  • A Breast Cancer Polygenic Risk Score Is Feasible for Risk Stratification in the Norwegian Population 
    Akdeniz, Bayram Cevdet; Mattingsdal, Morten; Dominguez-Valentin, Mev; Frei, Oleksandr; Shadrin, Alexey; Puustusmaa, Mikk; Saar, Regina; Sõber, Siim; Møller, Pål; Andreassen, Ole; Padrik, Peeter; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2023)
    Background: Statistical associations of numerous single nucleotide polymorphisms with breast cancer (BC) have been identified in genome-wide association studies (GWAS). Recent evidence suggests that a Polygenic Risk Score ...
  • Ancient genomes from Iceland reveal the making of a human population 
    Ebenesersdóttir, Sigríður Sunna; Sandoval-Velasco, Marcela; Gunnarsdóttir, Ellen D.; Jagadeesan, Anuradha; Guðmundsdóttir, Valdís B.; Thordardóttir, Elísabet L.; Einarsdóttir, Margrét S.; Moore, Kristjan H. S.; Sigurðsson, Ásgeir; Magnúsdóttir, Droplaug N.; Jónsson, Hákon; Snorradóttir, Steinunn; Hovig, Eivind; Møller, Pål; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Hansen, Thomas F.; Werge, Thomas; Cavalleri, Gianpiero L.; Gilbert, Edmund; Lalueza-Fox, Carles; Walser III, Joe W.; Kristjánsdóttir, Steinunn; Gopalakrishnan, Shyam; Arnadottir, Lilja; Magnússon, Ólafur Þ.; Gilbert, Marcus Thomas Pius; Stefánsson, Kári; Helgason, Agnar (Journal article / Tidsskriftartikkel / SubmittedVersion, 2018)
    The genomes of ancient humans can reveal patterns of early human migration (see the Perspective by Achilli et al.). Iceland has a genetically distinct population, despite relatively recent settlement (∼1100 years ago). ...
  • Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer 
    Nakken, Sigve; Saveliev, Vladislav; Hofmann, Oliver; Møller, Pål; Myklebost, Ola; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    The value of high-throughput germline genetic testing is increasingly recognized inclinical cancer care. Disease-associated germline variants in cancer patients areimportant for risk management and surveillance, surgical ...
  • Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database 
    Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Evans, D. Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H.; Jeffries, Jacqueline; Vasen, Hans F.A.; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul T.; Jenkins, Mark A.; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Dominguez-Valentin, Mev; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capella, Gabriel (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background Most patients with path_MMR gene variants (Lynch syndrome (LS)) now survive both their first and subsequent cancers, resulting in a growing number of older patients with LS for whom limited information exists ...
  • Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database 
    Dominguez-Valentin, Mev; Sampson, Julian R.; Seppälä, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D. Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos tot Nederveen Cappel, Wouter H.; Sijmons, Rolf H.; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; López-Köstner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; 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.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sánchez, Ariadna; Serra-Burriel, Miquel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Green, Kate; Lalloo, Fiona; Crosbie, Emma J.; Hill, James; Denton, Oliver G.; Frayling, Ian M.; Rødland, Einar Andreas; Vasen, Hans; Mints, Miriam; Neffa, Florencia; Esperon, Patricia; Alvarez, Karin; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Gonzalez, Maria Laura; Kalfayan, Pablo; Tjandra, Douglas; Winship, Ingrid M.; Macrae, Finlay; Möslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2020)
    Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely known cancer risks. This study aimed to provide age and organ-specific cancer risks according ...
  • Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report 
    Seppälä, Toni; Pylvänäinen, Kirsi; Evans, Dafydd G; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar A; Tharmaratnam, Kukatharmini; de Vos tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Jenkins, Mark; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M; Plazzer, John-Paul; Sampson, Julian R; Capella, Gabriel; Möslein, Gabriela; Mecklin, Jukka-Pekka; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Background We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1) despite follow-up with colonoscopy including polypectomy. ...
  • Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium 
    Møller, Pål; Seppälä, Toni; Dowty, James G.; Haupt, Saskia; Dominguez-Valentin, Mev; Sunde, Lone; Bernstein, Inge; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Evans, Dafydd G.; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Valle, Adriana D.; Heinimann, Karl; Half, Elizabeth; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Scott, Rodney J.; Katz, Lior; Laish, Ido; Vainer, Elez; Vaccaro, Carlos A.; Carraro, Dirce M.; Gluck, Nathan; Abu-Freha, Naim; Stakelum, Aine; Kennelly, Rory; Winter, Des; Rossi, Benedito M.; Greenblatt, Marc; Bohorquez, Mabel; Sheth, Harsh; Tibiletti, Maria G.; Lino-Silva, Leonardo S.; Horisberger, Karoline; Portenkirchner, Carmen; Nascimento, Ivana; Rossi, Norma T.; da Silva, Leandro A.; Thomas, Huw; Zaránd, Attila; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Therkildsen, Christina; Lindberg, Lars J.; Thorlacius-Ussing, Ole; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; de Vargas, Aída F.; Latchford, Andrew; Gerdes, Anne-Marie; Backman, Ann-Sofie; Guillén-Ponce, Carmen; Snyder, Carrie; Lautrup, Charlotte K.; Amor, David; Palmero, Edenir; Stoffel, Elena; Duijkers, Floor; Hall, Michael J.; Hampel, Heather; Williams, Heinric; Okkels, Henrik; Lubiński, Jan; Reece, Jeanette; Ngeow, Joanne; Guillem, Jose G.; Arnold, Julie; Wadt, Karin; Monahan, Kevin; Senter, Leigha; Rasmussen, Lene J.; van Hest, Liselotte P.; Ricciardiello, Luigi; Kohonen-Corish, Maija R. J.; Ligtenberg, Marjolijn J. L.; Southey, Melissa; Aronson, Melyssa; Zahary, Mohd N.; Samadder, N. J.; Poplawski, Nicola; Hoogerbrugge, Nicoline; Morrison, Patrick J.; James, Paul; Lee, Grant; Chen-Shtoyerman, Rakefet; Ankathil, Ravindran; Pai, Rish; Ward, Robyn; Parry, Susan; Dębniak, Tadeusz; John, Thomas; van Overeem Hansen, Thomas; Caldés, Trinidad; Yamaguchi, Tatsuro; Barca-Tierno, Verónica; Garre, Pilar; Cavestro, Giulia M.; Weitz, Jürgen; Redler, Silke; Büttner, Reinhard; Heuveline, Vincent; Hopper, John L.; Win, Aung K.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; ten Broeke, Sanne W.; Hovig, Eivind; Nakken, Sigve; Pineda, Marta; Dueñas, Nuria; Brunet, Joan; Green, Kate; Lalloo, Fiona; Newton, Katie; Crosbie, Emma J.; Mints, Miriam; Tjandra, Douglas; Neffa, Florencia; Esperon, Patricia; Kariv, Revital; Rosner, Guy; Pavicic, Walter H.; Kalfayan, Pablo; Torrezan, Giovana T.; Bassaneze, Thiago; Martin, Claudia; Moslein, Gabriela; Ahadova, Aysel; Kloor, Matthias; Sampson, Julian R.; Jenkins, Mark A. (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance ...
  • From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America 
    Vaccaro, Carlos Alberto; López‐Kostner, Francisco; Della Valle, Adriana; Palmero, Edenir Inêz; Rossi, Benedito Mauro; Antelo, Marina; Solano, Angela; Carraro, Dirce Maria; Forones, Nora Manoukian; Bohorquez, Mabel; Lino‐Silva, Leonardo S.; Buleje, Jose; Spirandelli, Florencia; Abe‐Sandes, Kiyoko; Nascimento, Ivana; Sullcahuaman, Yasser; Sarroca, Carlos; Gonzalez, Maria Laura; Herrando, Alberto Ignacio; Alvarez, Karin; Neffa, Florencia; Galvão, Henrique Camposreis; Esperon, Patricia; Golubicki, Mariano; Cisterna, Daniel; Cardoso, Florencia C.; Torrezan, Giovana Tardin; Junior, Samuel Aguiar; Pimenta, Célia Aparecida Marques; Formiga, Maria Nirvana da Cruz; Santos, Erika; Sá, Caroline U.; Oliveira, Edite P.; Fujita, Ricardo; Spirandelli, Enrique; Jimenez, Geiner; Guindalini, Rodrigo Santa Cruz; de Azevedo, Renata Gondim Meira Velame; Bueno, Larissa Souza Mario; Nogueira, Sonia Tereza dos Santos; Loarte, Mariela Torres; Padron, Jorge; Castro‐Mujica, Maria del Carmen; del Monte, Julio Sanchez; Caballero, Carmelo; Peña, Carlos Mario Muñeton; Pinto, Joseph P.; Barletta‐Carrillo, Claudia; Melva, Gutiérrez Angulo; Piñero, Tamara Alejandra; Beltran, Paola Montenegro; Ashton‐Prolla, Patricia; Rodriguez, Yenni; Quispe, Richard; Rossi, Norma Teresa; Martin, Claudia; Chialina, Sergio; Kalfayan, Pablo German; Bazo‐Alvarez, Juan Carlos; Cañete, Alcides Recalde; Dominguez‐Barrera, Constantino; Nuñez, Lina; da Silva, Sabrina Daniela; Balavarca, Yesilda; Vernhoff, Patrik; Plazzer, John‐Paul; Møller, Pål; Hovig, Eivind; Dominguez-Valentin, Mev (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening ...
  • Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru 
    Zavaleta, Elizabeth; Solis, Nelly; Palacios, Maria Isabel; Zevallos-Escobar, Liz Elva; Corales, Edison Vasquez; Bazo-Alvarez, Juan Carlos; Dominguez-Barrera, Constantino; Campos, Anthony; Wernhoff, Patrik; Ekstrøm, Per Olaf; Møller, Pål; Visnovska, Martina; Hovig, Eivind; Balazar-Palacios, Janina; Alvarez-Valenzuela, Karin; Nakken, Sigve; Dominguez-Valentin, Mev (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2022)
    Background: Genetic testing for hereditary cancers is inconsistently applied within the healthcare systems in Latin America. In Peru, the prevalence and spectrum of cancer-predisposing germline variants is thus poorly ...
  • Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds 
    Dominguez-Valentin, Mev; Evans, D. G R; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per O; Nissen, Anke M; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Møller, Pål; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional ...
  • Identification of genetic variants for clinical management of familial colorectal tumors 
    Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per O; Nissen, Anke M; Morak, Monika; Holinski-Feder, Elke; Martins, Alexandra; Møller, Pål; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2018)
    Background The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed ...
  • Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: A report from the prospective Lynch syndrome database 
    Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D. Gareth; Lindblom, Annika; MacRae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; De Vos Tot Nederveen Cappel, Wouter H.; Hill, James; Wijnen, Juul; Jenkins, Mark; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M.; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R.; Capella, Gabriel (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2017)
    Objective: Today most patients with Lynch syndrome (LS) survive their first cancer. There is limited information on the incidences and outcome of subsequent cancers. The present study addresses three questions: (i) what ...
  • Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes 
    Møller, Pål; Haupt, Saskia; Ahadova, Aysel; Kloor, Matthias; Sampson, Julian R.; Sunde, Lone; Seppälä, Toni; Burn, John; Bernstein, Inge; Capella, Gabriel; Evans, D. G.; Lindblom, Annika; Winship, Ingrid; Macrae, Finlay; Katz, Lior; Laish, Ido; Vainer, Elez; Monahan, Kevin; Half, Elizabeth; Horisberger, Karoline; da Silva, Leandro A.; Heuveline, Vincent; Therkildsen, Christina; Lautrup, Charlotte; Klarskov, Louise L.; Cavestro, Giulia M.; Möslein, Gabriela; Hovig, Eivind; Dominguez-Valentin, Mev (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2024)
    Background Colorectal cancers (CRCs) in the Lynch syndromes have been assumed to emerge through an accelerated adenoma-carcinoma pathway. In this model adenomas with deficient mismatch repair have an ...
  • Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality 
    Evans, Dafydd Gareth; Harkness, Elaine F.; Howell, Anthony; Wilson, Mary; Hurley, Emma; Holmen, Marit Muri; Tharmaratnam, Kukatharmini; Hagen, Anne Irene; Lim, Yit Yoong; Maxwell, Anthony James; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2016)
    Background The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast ...
  • Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report 
    Seppälä, Toni T; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. G; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Möslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lautrup, Charlotte K; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H; Aretz, Stefan; Hüneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Valle, Adriana D; Neffa, Florencia; Gluck, Nathan; de Vos tot Nederveen Cappel, Wouter H; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane; Frayling, Ian; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Mecklin, Jukka-Pekka; Kalager, Mette; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
    Background Recent epidemiological evidence shows that colorectal cancer (CRC) continues to occur in carriers of pathogenic mismatch repair (path_MMR) variants despite frequent colonoscopy surveillance in ...
  • 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, ...
  • Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing 
    Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodák, Daniel; Ekstrøm, Per Olaf; Nissen, Anke M.; Morak, Monika; Holinski-Feder, Elke; Holth, Arild; Capellá, Gabriel M.; Davidson, Ben; Evans, D. Gareth; Martins, Alexandra; Møller, Pål; Hovig, Eivind (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
    We have surveyed 191 prospectively sampled familial cancer patients with no previously detected pathogenic variant in the BRCA1/2, PTEN, TP53 or DNA mismatch repair genes. In all, 138 breast cancer (BC) cases, 34 colorectal ...
  • 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 ...
  • Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report 
    Dominguez-Valentin, Mev; Seppälä, Toni T; Sampson, Julian R; Macrae, Finlay; Winship, Ingrid; Evans, D. G; Scott, Rodney J; Burn, John; Möslein, Gabriela; Bernstein, Inge; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lindblom, Annika; Plazzer, John-Paul; Tjandra, Douglas; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Vidal, Joan B; Rønlund, Karina; Nielsen, Randi T; Yilmaz, Mette; Elvang, Louise L; Katz, Lior; Nielsen, Maartje; ten Broeke, Sanne W; Nakken, Sigve; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Knebel Doeberitz, Magnus v; Ahadova, Aysel; Lindor, Noralane; Steinke-Lange, Verena; Holinski-Feder, Elke; Mecklin, Jukka-Pekka; Møller, Pål (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2019)
    Background We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently ...
  • Ten modifiers of BRCA1 penetrance validated in a Norwegian series 
    Heramb, Cecilie; Ekstrøm, Per O; Tharmaratnam, Kukatharmini; Hovig, Eivind; Møller, Pål; Mæhle, Lovise (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2015)
    Background Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected ...