Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma

por Foss-Skiftesvik, Jon, Mathiasen, René, van Overeem Hansen, Thomas, Wadt, Karin, Schmiegelow, Kjeld, Stoltze, Ulrik Kristoffer
Publicado 2023

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes

por Caleca, Laura, Colombo, Mara, van Overeem Hansen, Thomas, Lázaro, Conxi, Manoukian, Siranoush, Parsons, Michael T., Spurdle, Amanda B., Radice, Paolo
Publicado 2019

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

por Stoltze, Ulrik, Skytte, Anne-Bine, Roed, Henriette, Hasle, Henrik, Ejlertsen, Bent, van Overeem Hansen, Thomas, Schmiegelow, Kjeld, Gerdes, Anne-Marie, Wadt, Karin
Publicado 2018

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

por Jelsig, Anne Marie, Byrjalsen, Anna, Busk Madsen, Majbritt, Kuhlmann, Tine Plato, van Overeem Hansen, Thomas, Wadt, Karin A W, Karstensen, John Gásdal
Publicado 2021

Exploring the hereditary background of renal cancer in Denmark

por Christensen, Maria Bejerholm, Wadt, Karin, Jensen, Uffe Birk, Lautrup, Charlotte Kvist, Bojesen, Anders, Krogh, Lotte Nylandsted, van Overeem Hansen, Thomas, Gerdes, Anne-Marie
Publicado 2019

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

por Stoltze, Ulrik Kristoffer, Hagen, Christian Munch, van Overeem Hansen, Thomas, Byrjalsen, Anna, Gerdes, Anne-Marie, Yakimov, Victor, Rasmussen, Simon, Bækvad-Hansen, Marie, Hougaard, David Michael, Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin, Bybjerg-Grauholm, Jonas
Publicado 2023

Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study

por Jelsig, Anne Marie, van Overeem Hansen, Thomas, Gede, Lene Bjerring, Qvist, Niels, Christensen, Lise-Lotte, Lautrup, Charlotte Kvist, Ljungmann, Ken, Christensen, Louise Torp, Rønlund, Karina, Tørring, Pernille Mathiesen, Bertelsen, Birgitte, Sunde, Lone, Karstensen, John Gásdal
Publicado 2023

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

por Jensen, Marlene Richter, Jelsig, Anne Marie, Gerdes, Anne-Marie, Hölmich, Lisbet Rosenkrantz, Kainu, Kati Hannele, Lorentzen, Henrik Frank, Hansen, Mary Højgaard, Bak, Mads, Johansson, Peter A., Hayward, Nicholas K., Van Overeem Hansen, Thomas, Wadt, Karin A.W.
Publicado 2023

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

por Djursby, Malene, Madsen, Majbritt B., Frederiksen, Jane H., Berchtold, Lukas A., Therkildsen, Christina, Willemoe, Gro L., Hasselby, Jane P., Wikman, Friedrik, Okkels, Henrik, Skytte, Anne-Bine, Nilbert, Mef, Wadt, Karin, Gerdes, Anne-Marie, van Overeem Hansen, Thomas
Publicado 2020

A complex of BRCA2 and PP2A-B56 is required for DNA repair by homologous recombination

por Ambjørn, Sara M., Duxin, Julien P., Hertz, Emil P. T., Nasa, Isha, Duro, Joana, Kruse, Thomas, Lopez-Mendez, Blanca, Rymarczyk, Beata, Cressey, Lauren E., van Overeem Hansen, Thomas, Kettenbach, Arminja N., Oestergaard, Vibe H., Lisby, Michael, Nilsson, Jakob
Publicado 2021

Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort

por Foss-Skiftesvik, Jon, Stoltze, Ulrik Kristoffer, van Overeem Hansen, Thomas, Ahlborn, Lise Barlebo, Sørensen, Erik, Ostrowski, Sisse Rye, Kullegaard, Solvej Margrete Aldringer, Laspiur, Adrian Otamendi, Melchior, Linea Cecilie, Scheie, David, Kristensen, Bjarne Winther, Skjøth-Rasmussen, Jane, Schmiegelow, Kjeld, Wadt, Karin, Mathiasen, René
Publicado 2022

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

por Burke, Leslie J., Sevcik, Jan, Gambino, Gaetana, Tudini, Emma, Mucaki, Eliseos J., Shirley, Ben C., Whiley, Phillip, Parsons, Michael T., De Leeneer, Kim, Gutiérrez‐Enríquez, Sara, Santamariña, Marta, Caputo, Sandrine M., Santana dos Santos, Elizabeth, Soukupova, Jana, Janatova, Marketa, Zemankova, Petra, Lhotova, Klara, Stolarova, Lenka, Borecka, Mariana, Moles‐Fernández, Alejandro, Manoukian, Siranoush, Bonanni, Bernardo, Edwards, Stacey L., Blok, Marinus J., van Overeem Hansen, Thomas, Rossing, Maria, Diez, Orland, Vega, Ana, Claes, Kathleen B.M., Goldgar, David E., Rouleau, Etienne, Radice, Paolo, Peterlongo, Paolo, Rogan, Peter K., Caligo, Maria, Spurdle, Amanda B., Brown, Melissa A.
Publicado 2018

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

por O’Mahony, Denise G., Ramus, Susan J., Southey, Melissa C., Meagher, Nicola S., Hadjisavvas, Andreas, John, Esther M., Hamann, Ute, Imyanitov, Evgeny N., Andrulis, Irene L., Sharma, Priyanka, Daly, Mary B., Hake, Christopher R., Weitzel, Jeffrey N., Jakubowska, Anna, Godwin, Andrew K., Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A., Mai, Phuong L., Claes, Kathleen B. M., Teixeira, Manuel R., Chung, Wendy K., Lazaro, Conxi, Hulick, Peter J., Toland, Amanda E., Pedersen, Inge Sokilde, Neuhausen, Susan L., Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A., Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L., Domchek, Susan M., Osorio, Ana, García, María J., Karlan, Beth Y., De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T., Dörk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André B. A., Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K., Wappenschmidt, Barbara, Easton, Douglas F., Tischkowitz, Marc, Singer, Christian F., Tan, Yen Yen, Whittemore, Alice S., Sieh, Weiva, Brenton, James D., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul D. P., Antoniou, Antonis C., Goldgar, David E., Spurdle, Amanda B., Michailidou, Kyriaki
Publicado 2023

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

por 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 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, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, 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 Falcón, 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. Jewel, 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 Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, 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 Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Jenkins, Mark A.
Publicado 2022