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收藏Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair (vol 14, 3636, 2023)
Sherwood, Kitty; Ward, Joseph C.; Soriano, Ignacio; Martin, Lynn; Campbell, Archie; Rahbari, Raheleh; Kafetzopoulos, Ioannis; Sproul, Duncan; Green, Andrew; Sampson, Julian R.; Donaldson, Alan; Ong, Kai-Ren; Heinimann, Karl; Nielsen, Maartje; Thomas, Huw; Latchford, Andrew; Palles, Claire; Tomlinson, Ian 分享 收藏 Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair由DNA修复缺陷引起的孟德尔癌症综合征家族中的种系从头突变Sherwood, Kitty; Ward, Joseph C.; Soriano, Ignacio; Martin, Lynn; Campbell, Archie; Rahbari, Raheleh; Kafetzopoulos, Ioannis; Sproul, Duncan; Green, Andrew; Sampson, Julian R.; Donaldson, Alan; Ong, Kai-Ren; Heinimann, Karl; Nielsen, Maartje; Thomas, Huw; Latchford, Andrew; Palles, Claire; Tomlinson, Ian 分享 收藏 Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database接受早期癌症诊断和治疗监测的致病性错配修复基因变异携带者的年龄，基因和性别死亡率: 前瞻性Lynch综合征数据库的报告Dominguez-Valentin, Mev; Haupt, Saskia; Seppala, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; 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; Della Valle, Adriana; Heinimann, Karl; Debniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lor H.; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S.; Horisberger, Karoline; Tibiletti, Maria Grazia; do Nascimento, Ivana; Thomas, Huw; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Zarand, Attila; Ruiz-Banobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistoe, Anna; Peltomaeki, Paeivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Schroeck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; Redler, Silke; Buettner, Reinhard; Weitz, Jurgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sanchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Advani, Suresh H.; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pal 分享 收藏 Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE CohortSarki, Mahesh; Ming, Chang; Aceti, Monica; Fink, Guenther; Aissaoui, Souria; Buerki, Nicole; Graffeo, Rossella; Heinimann, Karl; Zufferey, Maria Caiata; Monnerat, Christian; Rabaglio, Manuela; Zuerrer-Haerdi, Ursina; Chappuis, Pierre O.; Katapodi, Maria C. 分享 收藏 Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relativesSalikhanov, Islam; Heinimann, Karl; Chappuis, Pierre; Buerki, Nicole; Graffeo, Rossella; Heinzelmann, Viola; Rabaglio, Manuela; Taborelli, Monica; Wieser, Simon; Katapodi, Maria C. 分享 收藏 No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database StudyDominguez-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; Cappel, Wouter H. de Vos Tot Nederveen; 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 A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Juergen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; 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; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moslein, Gabriela; Seppala, Toni T.; Moller, Pal 分享 收藏 Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportSeppala, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; 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; Vida, Joan B.; Kariv, Revital; Rosner, Guy; Pinero, Tamara A.; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Redler, Silke; Weitz, Jurgen; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Hopper, John L.; Win, Aung K.; Lindor, Noralane M.; Gallinger, Steven; Marchand, Loic Le; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Wadt, Karin A. W.; Mourits, Marian J. E.; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar A.; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Rokkones, Erik; Sampson, Julian R.; Evans, D. G.; Moller, Pal 分享 收藏 Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database reportDominguez-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; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T.; Moller, Pal 分享 收藏 Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (vol 22, pg 15, 2020)Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, 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; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buttner, Reinhard; Gorgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Huneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, 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.; Rodland, 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; Moslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Moller, Pal 分享 收藏 Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers青少年息肉病综合征的疾病表达: 对221名欧洲患者队列的回顾性调查，并与473 SMAD4/BMPR1A致病变异携带者的文献队列进行比较Blatter, Robert; Tschupp, Benjamin; Aretz, Stefan; Bernstein, Inge; Colas, Chrystelle; Evans, D. Gareth; Genuardi, Maurizio; Hes, Frederik J.; Hueneburg, Robert; Jarvinen, Heikki; Lalloo, Fiona; Moeslein, Gabriela; Renkonen-Sinisalo, Laura; Resta, Nicoletta; Spier, Isabel; Varvara, Dora; Vasen, Hans; Latchford, Andrew R.; Heinimann, Karl 分享 收藏 Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome DatabaseDominguez-Valentin, Mev; Seppala, Toni T.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; 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; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Sampson, Julian R.; Ryan, Neil A. J.; Evans, D. Gareth; Moller, Pal; Crosbie, Emma J. 分享 收藏 分享 收藏 Germline RET variants underlie a subset of paediatric osteosarcomaKovac, Michal; Woolley, Connor; Ribi, Sebastian; Blattmann, Claudia; Roth, Eva; Morini, Marco; Kovacova, Monika; Ameline, Baptiste; Kulozik, Andreas; Bielack, Stefan; Hartmann, Wolfgang; Ballinger, Mandy L.; Thomas, David M.; Tomlinson, Ian; Nathrath, Michaela; Heinimann, Karl; Baumhoer, Daniel 分享 收藏 Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database6350致病性错配修复变异体携带者的基因、年龄和性别的癌症风险: 来自前瞻性Lynch综合征数据库的发现Dominguez-Valentin, Mev; Sampson, Julian R.; Seppala, 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; Lopez-Kostner, Francisco; Gluck, Nathan; Katz, Lior H.; Heinimann, Karl; Vaccaro, Carlos A.; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schackert, Hans K.; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Wadt, Karin; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Moreira, Leticia; Sanchez, 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.; Rodland, 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; Moeslein, Gabriela; Mecklin, Jukka-Pekka; Nielsen, Maartje; Moller, Pal 分享 收藏 An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndromeSuerink, Manon; Rodriguez-Girondo, Mar; van der Klift, Heleen M.; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noemie; Jongmans, Marjolijn; Capella Munar, Gabriel; Evans, D. Gareth; Farrell, Michael P.; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica, I; Aretz, Stefan; Jasperson, Kory W.; Kedar, Inbal; Modi, Mitul B.; Nikolaev, Sergey; van Os, Theo A. M.; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G.; Trainer, Alison H.; Vos, Yvonne J.; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y.; Vasen, Hans F.; van Asperen, Christi J.; Houwing-Duistermaat, Jeanine J.; ten Broeke, Sanne W.; Nielsen, Maartje 分享 收藏 Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong EuthyroidismDufort, Gabrielle; Larrivee-Vanier, Stephanie; Eugene, Dardye; De Deken, Xavier; Seebauer, Britta; Heinimann, Karl; Levesque, Sebastien; Gravel, Serge; Szinnai, Gabor; Van Vliet, Guy; Deladoey, Johnny 分享 收藏 Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular CarcinomaLackner, Carolin; Quagliata, Luca; Cross, William; Ribi, Sebastian; Heinimann, Karl; Paradiso, Viola; Quintavalle, Cristina; Kovacova, Monika; Baumhoer, Daniel; Piscuoglio, Salvatore; Terracciano, Luigi; Kovac, Michal 分享 收藏 分享 收藏 Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveriesMeier, Nicole; Bruder, Elisabeth; Lapaire, Olav; Hoesli, Irene; Kang, Anjeung; Hench, Jurgen; Hoeller, Sylvia; De Geyter, Julie; Miny, Peter; Heinimann, Karl; Chaoui, Rabih; Tercanli, Sevgi; Filges, Isabel 分享 收藏 
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