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TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma Jensen, Marlene Richter; Jelsig, Anne Marie; Gerdes, Anne-Marie; Holmich, Lisbet Rosenkrantz; Kainu, Kati Hannele; Lorentzen, Henrik Frank; Hansen, Mary Hojgaard; Bak, Mads; Johansson, Peter A.; Hayward, Nicholas K.; Hansen, Thomas Van Overeem; Wadt, Karin A. W. 分享 收藏
Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness Andersen, Lars v. B.; Larsen, Martin J.; Davies, Helen; Degasperi, Andrea; Nielsen, Henriette Roed; Jensen, Louise A.; Kroeldrup, Lone; Gerdes, Anne-Marie; Laenkholm, Anne-Vibeke; Kruse, Torben A.; Nik-Zainal, Serena; Thomassen, Mads 分享 收藏
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors Stoltze, Ulrik Kristoffer; Foss-Skiftesvik, Jon; Hansen, Thomas van Overeem; Byrjalsen, Anna; Sehested, Astrid; Scheie, David; Mikkelsen, Torben Stamm; Rasmussen, Simon; Bak, Mads; Okkels, Henrik; Callesen, Michael Thude; Skjoth-Rasmussen, Jane; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Mathiasen, Rene; Wadt, Karin 分享 收藏
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Update of penetrance estimates in Birt-Hogg-Dube syndrome Bruinsma, Fiona Jane; Dowty, James G.; Win, Aung Ko; Goddard, Laura C.; Agrawal, Prachi; Attina, Domenico; Bissada, Nabil; De Luise, Monica; Eisen, Daniel B.; Furuya, Mitsuko; Gasparre, Giuseppe; Genuardi, Maurizio; Gerdes, Anne-Marie; Hansen, Thomas Van Overeem; Houweling, Arjan C.; Johannesma, Paul Christiaan; Lencastre, Andre; Lim, Derek; Lindor, Noralane M.; Luzzi, Valentina; Lynch, Maeve; Maffe, Antonella; Menko, Fred H.; Michels, Guido; Pulido, Jose S.; Jay, Ryu H.; Sattler, Elke C.; Steinlein, Ortrud K.; Tomassetti, Sara; Tucker, Kathy; Turchetti, Daniela; van de Beek, Irma; van Riel, Lore; van Steensel, Maurice; Zenone, Thierry; Zompatori, Maurizo; Walsh, Jennifer; Bondavalli, Davide; Maher, Eamonn R.; Winship, Ingrid M. 分享 收藏
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer Djursby, Malene; Hansen, Thomas van Overeem; Wadt, Karin A. W.; Madsen, Majbritt Busk; Berchtold, Lukas Adrian; Lautrup, Charlotte Kvist; Markholt, Sara; Jensen, Uffe Birk; Krogh, Lotte Nylandsted; Lundsgaard, Malene; Gerdes, Anne Marie; Nilbert, Mef; Therkildsen, Christina 分享 收藏
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants 携带BRCA1和BRCA2致病错义变异体的女性与携带蛋白截断变异体的女性相比，患乳腺癌和卵巢癌的风险 Li, Hongyan; Engel, Christoph; de la Hoya, Miguel; Peterlongo, Paolo; Yannoukakos, Drakoulis; Livraghi, Luca; Radice, Paolo; Thomassen, Mads; Hansen, Thomas V. O.; Gerdes, Anne-Marie; Nielsen, Henriette R.; Caputo, Sandrine M.; Zambelli, Alberto; Borg, Ake; Solano, Angela; Thomas, Abigail; Parsons, Michael T.; Antoniou, Antonis C.; Leslie, Goska; Yang, Xin; Chenevix-Trench, Georgia; Caldes, Trinidad; Kwong, Ava; Pedersen, Inge Sokilde; Lautrup, Charlotte K.; John, Esther M.; Terry, Mary Beth; Hopper, John L.; Southey, Melissa C.; Andrulis, Irene L.; Tischkowitz, Marc; Janavicius, Ramunas; Boonen, Susanne E.; Kroeldrup, Lone; Varesco, Liliana; Hamann, Ute; Vega, Ana; Palmero, Edenir, I; Garber, Judy; Montagna, Marco; Van Asperen, Christi J.; Foretova, Lenka; Greene, Mark H.; Selkirk, Tina; Moller, Pal; Toland, Amanda E.; Domchek, Susan M.; James, Paul A.; Thorne, Heather; Eccles, Diana M.; Nielsen, Sarah M.; Manoukian, Siranoush; Pasini, Barbara; Caligo, Maria A.; Lazaro, Conxi; Kirk, Judy; Wappenschmidt, Barbara; Spurdle, Amanda B.; Couch, Fergus J.; Schmutzler, Rita; Goldgar, David E. 分享 收藏
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Tumour-infiltrating CD4-, CD8-and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer Jorgensen, Nanna; Hviid, Thomas Vauvert F.; Nielsen, Lise B.; Sonderstrup, Ida M. H.; Eriksen, Jens Ole; Ejlertsen, Bent; Gerdes, Anne-Marie; Kruse, Torben A.; Thomassen, Mads; Jensen, Maj-Britt; Laenkholm, Anne-Vibeke 分享 收藏
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study Schrijver, Lieske H.; Antoniou, Antonis C.; Olsson, Hakan; Mooij, Thea M.; Roos-Blom, Marie-Jose; Azarang, Leyla; Adlard, Julian; Ahmed, Munaza; Barrowdale, Daniel; Davidson, Rosemarie; Donaldson, Alan; Eeles, Ros; Evans, D. Gareth; Frost, Debra; Henderson, Alex; Izatt, Louise; Ong, Kai-Ren; Bonadona, Valerie; Coupier, Isabelle; Faivre, Laurence; Fricker, Jean-Pierre; Gesta, Paul; van Engelen, Klaartje; Jager, Agnes; Menko, Fred H.; Mourits, Marian J. E.; Singer, Christian F.; Tan, Yen Y.; Foretova, Lenka; Navratilova, Marie; Schmutzler, Rita K.; Ellberg, Carolina; Gerdes, Anne-Marie; Caldes, Trinidad; Simard, Jacques; Olah, Edith; Jakubowska, Anna; Rantala, Johanna; Osorio, Ana; Hopper, John L.; Phillips, Kelly-Anne; Milne, Roger L.; Terry, Mary Beth; Nogues, Catherine; Engel, Christoph; Kast, Karin; Goldgar, David E.; van Leeuwen, Flora E.; Easton, Douglas F.; Andrieu, Nadine; Rookus, Matti A. 分享 收藏
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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes Byrjalsen, Anna; Hansen, Thomas V. O.; Stoltze, Ulrik K.; Mehrjouy, Mana M.; Barnkob, Nanna Moeller; Hjalgrim, Lisa L.; Mathiasen, Rene; Lautrup, Charlotte K.; Gregersen, Pernille A.; Hasle, Henrik; Wehner, Peder S.; Tuckuviene, Ruta; Sackett, Peter Wad; Laspiur, Adrian O.; Rossing, Maria; Marvig, Rasmus L.; Tommerup, Niels; Olsen, Tina Elisabeth; Scheie, David; Gupta, Ramneek; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Wadt, Karin 分享 收藏
Breast cancer survival in NordicBRCA2mutation carriers-unconventional association with oestrogen receptor status Olafsdottir, Elinborg J.; Borg, Ake; Jensen, Maj-Britt; Gerdes, Anne-Marie; Johansson, Anna L. V.; Barkardottir, Rosa B.; Johannsson, Oskar T.; Ejlertsen, Bent; Sonderstrup, Ida Marie Heeholm; Hovig, Eivind; Laenkholm, Anne-Vibeke; Hansen, Thomas van Overeem; Olafsdottir, Gudridur H.; Rossing, Maria; Jonasson, Jon G.; Sigurdsson, Stefan; Loman, Niklas; Nilsson, Martin P.; Narod, Steven A.; Tryggvadottir, Laufey 分享 收藏
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome 计算和细胞研究揭示了Lynch综合征MLH1变体的结构不稳定和降解 Abildgaard, Amanda B.; Stein, Amelie; Nielsen, Sofie V.; Schultz-Knudsen, Katrine; Papaleo, Elena; Shrikhande, Amruta; Hoffmann, Eva R.; Bernstein, Inge; Gerdes, Anne-Marie; Takahashi, Masanobu; Ishioka, Chikashi; Lindorff-Larsen, Kresten; Hartmann-Petersen, Rasmus 分享 收藏
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification BRCA1和BRCA2变异的大规模多因素可能性定量分析: 支持临床变异分类的ENIGMA资源 Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Capone, Gabriele L.; Caputo, Sandrine M.; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M.; Concolino, Paola; Cops, Elisa J.; Cortesi, Laura; Couch, Fergus J.; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; Eccles, Diana M.; Ehrencrona, Hans; Enders, Ute; Evans, D. Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D.; Galvao, Henrique Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina; Kiechle, Marion; Koelbl, Alexandra; Krieger, Sophie; Kruse, Torben A.; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L.; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L.; Lim, Joanna; Loeffler, Markus; Lopez-Fernandez, Adria; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles-Fernandez, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N.; Montes, Eva; Mori, Luigi; Moserle, Lidia; Mueller, Clemens R.; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L.; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B.; Niederacher, Dieter; Nielsen, Henriette R.; Ong, Kai-ren; Pachter, Nicholas; Palmero, Edenir, I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K.; Porfirio, Berardino; Quante, Anne S.; Ramser, Juliane; Reis, Rui M.; Revillion, Francoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sanchez de Abajo, Ana Maria; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiss, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean, V; Teo, Soo H.; Teule, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Torngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H.; Tucker, Katherine M.; van Asperen, Christi J.; van Mackelenbergh, Marion T.; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Angela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P. G.; Wagner, Sebastian A.; Waha, Anke; Walker, Logan C.; Walters, Rhiannon J.; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Weichert, Wilko; Wieland, Kerstin; Wiesmueller, Lisa; Witzel, Isabell; Woeckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder-Goss, Christine; Lazaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E.; Spurdle, Amanda B. 分享 收藏
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT 使用GenoMELPREDICT估计全球家族性黑色素瘤病例中的CDKN2A突变携带者概率 Taylor, Nicholas J.; Mitra, Nandita; Qian, Lu; Avril, Marie-Francoise; Bishop, D. Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cuellar, Francisco; Cust, Anne E.; Demenais, Florence; Elder, David E.; Gerdes, Anne-Marie; Ghiorzo, Paola; Goldstein, Alisa M.; Grazziotin, Thais C.; Gruis, Nelleke A.; Hansson, Johan; Harland, Mark; Hayward, Nicholas K.; Hocevar, Marko; Hoiom, Veronica; Holland, Elizabeth A.; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J.; Nagore, Eduardo; Olsson, Hakan; Palmer, Jane M.; Peric, Barbara; Pjanova, Dace; Pritchard, Antonia L.; Puig, Susana; Schmid, Helen; van der Stoep, Nienke; Tucker, Margaret A.; Wadt, Karin A. W.; Yang, Xiaohong R.; Newton-Bishop, Julia A.; Kanetsky, Peter A. 分享 收藏
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