Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Christoph Engel"'
Autor:
Pascal Probst, Christoph Engel, Kerstin Wohlleber, Patrick Heger, Markus K. Diener, André L. Mihaljevic
Publikováno v:
Quality of Life Research
Purpose Patient-reported outcomes including health-related quality of life (HRQoL) are important oncological outcome measures. The validation of HRQoL instruments for patients with hepatocellular and cholangiocellular carcinoma is lacking. Furthermor
Autor:
V. Wendy Setiawan, Ana Osorio, Liv Cecilie Vestrheim Thomsen, Francesca Gensini, Harsha Pathak, Barbara Wappenschmidt, Ingo B. Runnebaum, Javier Benitez, Rita K. Schmutzler, Jeffrey N. Weitzel, Yin Ling Woo, Kenneth Offit, Anthony N. Karnezis, Eitan Friedman, Jacques Simard, James M. Flanagan, Pedro Pérez-Segura, Siranoush Manoukian, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Graham G. Giles, Usha Menon, Ava Kwong, Anna H. Wu, Thomas Hansen, Cristina Rodríguez-Antona, Maria A. Caligo, Argyrios Ziogas, Allison DePersia, Anna P. Sokolenko, Clarice R. Weinberg, Hoda Anton-Culver, Digna R. Velez Edwards, Jennifer B. Permuth, Patricia A. Ganz, Ana Vega, Keitaro Matsuo, Heli Nevanlinna, Frances Wang, Natalia Antonenkova, Claudine Isaacs, Conxi Lázaro, Melissa C. Larson, Henriette Roed Nielsen, Byoung-Gie Kim, Andreas du Bois, Dale P. Sandler, Anna Jakubowska, Paul D.P. Pharoah, Jenny Lester, Paolo Radice, Natalia Bogdanova, Lambertus A. Kiemeney, Mary Anne Rossing, Thilo Dörk, Ruea-Yea Huang, Judy Garber, Taymaa May, Diana Eccles, Mary Beth Terry, Jenny Chang-Claude, Jeffrey R. Marks, Dominique Stoppa-Lyonnet, Heather Eliassen, Douglas A. Levine, Phuong L. Mai, Gerasimos Aravantinos, Hui Cai, Britton Trabert, Amanda Black, Noura Mebirouk, Robin de Putter, Rayna K. Matsuno, Ralf Bützow, Joanne Ngeow Yuen Yie, James D. Brenton, Nadine Tung, Drakoulis Yannoukakos, Jonathan Tyrer, L Yan, Yen Y. Tan, Ian Komenaka, Simona Agata, Honglin Song, Tanja Pejovic, Marjorie J. Riggan, Antonis C. Antoniou, Katja K.H. Aben, Goska Leslie, Eric A. Ross, Estrid Høgdall, Kang Shan, Holly R. Harris, Eleanor Davies, Liene Nikitina-Zake, Florian Heitz, Stephen J. Chanock, Matthew Jones, Beth Y. Karlan, Matthias W. Beckmann, Penelope M. Webb, John L. Hopper, Peter A. Fasching, Jacek Gronwald, kConFab Investigators, Ana Peixoto, Joellen M. Schildkraut, Renée T. Fortner, Susan L. Neuhausen, Daehee Kang, Anthony J. Swerdlow, Lesley McGuffog, Marco Montagna, Paolo Peterlongo, Daniel R. Barnes, Marina Bermisheva, Alicja Wolk, Yuan Chun Ding, Marc Tischkowitz, Gord Glendon, Elza Khusnutdinova, Julie M. Cunningham, Saundra S. Buys, Albina N. Minlikeeva, Jennifer A. Doherty, Annemieke H. van der Hout, Austin Miller, Fergus J. Couch, Fabienne Lesueur, Peter Devilee, Kristin K. Zorn, Daniel Barrowdale, Christian F. Singer, Line Bjørge, Åke Borg, Diether Lambrechts, Shelley S. Tworoger, Allan Jensen, Ute Hamann, Douglas F. Easton, Bernardo Bonanni, Alvaro N.A. Monteiro, Johanna Rantala, Marc T. Goodman, Ellen Valen, Wei Zheng, Thomas A. Sellers, Marcus Q. Bernardini, Alice S. Whittemore, Kunle Odunsi, Inge Søkilde Pedersen, Laura Papi, Mads Thomassen, Allison W. Kurian, Emily White, Penny Soucy, D. Gareth Evans, Lenka Foretova, Kathryn L. Terry, Ruth C. Travis, Claus Høgdall, Hebon Investigators, Darya Prokofyeva, Stacey J. Winham, Yoke-Eng Chiew, Eileen Dareng, Jan Lubinski, Elizabeth Munro, Oskar T. Johannsson, Linda E. Kelemen, Kexin Chen, Xin Yang, Manuel R. Teixeira, Anna M. Piskorz, Edith Olah, Helen Steed, Beth N. Peshkin, Georgia Chenevix-Trench, Andrew K. Godwin, Pamela J. Thompson, Chad D. Huff, Rosa B. Barkardottir, Muriel A. Adank, Mikael Hartman, Linda J. Titus, Weiva Sieh, Simon A. Gayther, Peter J. Hulick, Michael T. Parsons, Elisa V. Bandera, Amanda E. Toland, Miguel de la Hoya, Orland Diez, Alicia Beeghly-Fadiel, Rebecca Sutphen, Francesmary Modugno, Judith Balmaña, Christoph Engel, Harvey A. Risch, Elizabeth J. van Rensburg, Michael Jones, Rikki Cannioto, Michelle A.T. Hildebrandt, Soo Hwang Teo, Fanny Dao, Susan J. Ramus, Sarah Colanna, Kathleen Claes, David G. Huntsman, Siel Olbrecht, Esther M. John, Robert A. Vierkant, Wendy K. Chung, Ellen L. Goode, Olufunmilayo I. Olopade, Evgeny N. Imyanitov, Joe Dennis, Andrew Berchuck, Banu Arun, Darcy L. Thull, Lian Li, Celeste Leigh Pearce, Sue K. Park, Susan M. Domchek, Agnieszka Budzilowska, Håkan Olsson, Susanne K. Kjaer, Mark H. Greene, Katia M. Zavaglia, Jolanta Kupryjanczyk, Nicolas Wentzensen, Karen H. Lu, Hayley Cassingham, Christopher A. Haiman, Eric Hahnen, Els Van Nieuwenhuysen, Katherine L. Nathanson, Anna deFazio, Ian G. Campbell, Paul A. James, Sara H. Olson, Eva Machackova, Anne M. van Altena, Irene L. Andrulis, Linda S. Cook, Matthias Dürst, Mary B. Daly, John R. McLaughlin, Niclas Håkansson, Jingmei Li, Diana Torres, Iain A. McNeish, Jennifer T. Loud, Roger L. Milne, Marta Santamariña, Annelie Augustinsson, Nhu D. Le, Kate Lawrenson, Kirsten B. Moysich
Funder: Funding details are provided in the Supplementary Material
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect
Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9aaa984ffc2cdcd6cfc6ec386fa3fa2
Autor:
Georgia Chenevix-Trench, Melissa C. Southey, Ramunas Janavicius, Abigail Thomas, Mads Thomassen, Ana Vega, Paul A. James, David E. Goldgar, Xin Yang, Marco Montagna, Charlotte Kvist Lautrup, Trinidad Caldés, Åke Borg, Henriette Roed Nielsen, Christi J. van Asperen, Amanda E. Toland, Diana Eccles, Siranoush Manoukian, Barbara Wappenschmidt, Angela R. Solano, Pål Møller, Tina Selkirk, John L. Hopper, Maria A. Caligo, Judy Kirk, Paolo Peterlongo, Susanne E. Boonen, Alberto Zambelli, Amanda B. Spurdle, Conxi Lázaro, Paolo Radice, Lone Kroeldrup, Fergus J. Couch, Irene L. Andrulis, Thomas Hansen, Ute Hamann, Esther M. John, Hongyan Li, Christoph Engel, Edenir Inêz Palmero, Sarah M. Nielsen, Mary Beth Terry, Judy Garber, Goska Leslie, Drakoulis Yannoukakos, Antonis C. Antoniou, Luca Livraghi, Ava Kwong, Inge Søkilde Pedersen, Miguel de la Hoya, Rita K. Schmutzler, Barbara Pasini, Michael T. Parsons, Mark H. Greene, Liliana Varesco, Lenka Foretova, Marc Tischkowitz, Susan M. Domchek, Heather Thorne, Anne-Marie Gerdes, Sandrine M. Caputo
Publikováno v:
Li, H, Engel, C, de la Hoya, M, Peterlongo, P, Yannoukakos, D, Livraghi, L, Radice, P, Thomassen, M, Hansen, T V O, Gerdes, A-M, Nielsen, H R, Caputo, S M, Zambelli, A, Borg, A, Solano, A, Thomas, A, Parsons, M T, Antoniou, A C, Leslie, G, Yang, X, Chenevix-Trench, G, Caldes, T, Kwong, A, Pedersen, I S, Lautrup, C K, John, E M, Terry, M B, Hopper, J L, Southey, M C, Andrulis, I L, Tischkowitz, M, Janavicius, R, Boonen, S E, Kroeldrup, L, Varesco, L, Hamann, U, Vega, A, Palmero, E I, Garber, J, Montagna, M, Van Asperen, C J, Foretova, L, Greene, M H, Selkirk, T, Moller, P, Toland, A E, Domchek, S M, James, P A, Thorne, H, Eccles, D M, Nielsen, S M, Manoukian, S, Pasini, B, Caligo, M A, Lazaro, C, Kirk, J, Wappenschmidt, B, Spurdle, A B, Couch, F J, Schmutzler, R, Goldgar, D E, ENIGMA consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Genet Med
Genetics in Medicine, 24(1), 119-129. ELSEVIER SCIENCE INC
ENIGMA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Goldgar, D E, ENIGMA Consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Genet Med
Genetics in Medicine, 24(1), 119-129. ELSEVIER SCIENCE INC
ENIGMA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Goldgar, D E, ENIGMA Consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Purpose: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f6126a0e1d1c2a72db8b98d5832538
https://vbn.aau.dk/da/publications/8cc27e8f-140c-4597-aedf-06010614dc87
https://vbn.aau.dk/da/publications/8cc27e8f-140c-4597-aedf-06010614dc87
Publikováno v:
Genes
Andrews, W J, Ray, S, Panova, T, Engel, C & Panov, K I 2021, ' DNA Intercalators Inhibit Eukaryotic Ribosomal RNA Synthesis by Impairing the Initiation of Transcription ', Genes, vol. 12, no. 9, 1412 . https://doi.org/10.3390/genes12091412
Volume 12
Issue 9
Genes, Vol 12, Iss 1412, p 1412 (2021)
Andrews, W J, Ray, S, Panova, T, Engel, C & Panov, K I 2021, ' DNA Intercalators Inhibit Eukaryotic Ribosomal RNA Synthesis by Impairing the Initiation of Transcription ', Genes, vol. 12, no. 9, 1412 . https://doi.org/10.3390/genes12091412
Volume 12
Issue 9
Genes, Vol 12, Iss 1412, p 1412 (2021)
In eukaryotes, ribosome biogenesis is driven by the synthesis of the ribosomal RNA (rRNA) by RNA polymerase I (Pol-I) and is tightly linked to cell growth and proliferation. The 3D-structure of the rDNA promoter plays an important, yet not fully unde
Autor:
Guy Rosner, Walter Hernán Pavicic, Claudia Perne, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira, Wouter H. de Vos tot Nederveen Cappel, Stefan Aretz, Einar Andreas Rødland, Polly A. Newcomb, Karin Alvarez, Ariadna Sánchez, Lone Sunde, Wolff Schmiegel, Joan Brunet, Marc S. Greenblatt, Christina Therkildsen, Karl Heinimann, Lior H. Katz, Fiona Lalloo, Jürgen Weitz, Anna Lepistö, Rolf H. Sijmons, Maartje Nielsen, Hans F. A. Vasen, Deepak Vangala, Monika Morak, Jukka-Pekka Mecklin, Toni T. Seppälä, Sigve Nakken, Stefanie Holzapfel, Douglas Tjandra, Finlay A. Macrae, Päivi Peltomäki, Daniel D. Buchanan, Stephen N. Thibodeau, Adriana Della Valle, James Hill, Annika Lindblom, Bernardo Bonanni, Reinhard Büttner, Francisco López-Köstner, Giulia Martina Cavestro, John Burn, Emma J Crosbie, Lucio Bertario, Sanne W. ten Broeke, D. G. R. Evans, Kate Green, Verena Steinke-Lange, Eivind Hovig, Miquel Serra-Burriel, Francesc Balaguer, Kirsi Pylvänäinen, Gabriela Möslein, Revital Kariv, Thomas Hansen, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Nils Rahner, Magnus von Knebel Doeberitz, Ingrid Winship, Nathan Gluck, Lars Joachim Lindberg, Christoph Engel, Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Marta Pineda, John L. Hopper, Pablo Kalfayan, Heike Görgens, Aung Ko Win, Steven Gallinger, Loic Le Marchand, Mark A. Jenkins, Markus Loeffler, Noralane M. Lindor, Inge Bernstein, Pål Møller, Laura Renkonen-Sinisalo, Florencia Neffa, Huw Thomas, Gabriel Capellá, Jane C. Figueiredo, Miriam Mints, Patricia Esperon, Matilde Navarro, Robert Hüneburg
Publikováno v:
Journal of Clinical Medicine, 10(13):2856. MDPI AG
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI
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, ovarian, urinary tract, pros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a724a577132e178f2435d01b2921fa
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88
Autor:
Lisa Devereux, Douglas F. Easton, Simone McInerny, Melissa C. Southey, R. K. Schmutzler, Orland Diez, Muriel A. Adank, Tu Nguyen-Dumont, Alfons Meindl, Alejandro Moles-Fernández, Marjanka K. Schmidt, Rodney J. Scott, Martine Dumont, Paul A. James, Christoph Engel, Fabienne Lesueur, Penny Soucy, Yu Kuan Huang, N Li, Elad Ziv, Elodie Girard, Eric Hahnen, Magnus Zethoven, Jamie Allen, Kylie L. Gorringe, Susan L. Neuhausen, Irene L. Andrulis, Dane Cheasley, Jacques Simard, John L. Hopper, Ian G. Campbell, Niko Thio, Sara Gutiérrez-Enríquez
Publikováno v:
Scientia
npj Breast Cancer, Vol 7, Iss 1, Pp 1-12 (2021)
npj Breast Cancer
npj Breast Cancer, Vol 7, Iss 1, Pp 1-12 (2021)
npj Breast Cancer
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary breast cancer is unknow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54992fafa37b89d1887bd85898f2a787
https://hdl.handle.net/11351/6767
https://hdl.handle.net/11351/6767
Autor:
Eivind Hovig, Bernardo Bonanni, Monika Morak, Mark A. Jenkins, Patricia Esperon, Toni T. Seppälä, Lone Sunde, Pablo Kalfayan, Gabriel Capellá, Inge Bernstein, Matilde Navarro, Marc S. Greenblatt, John Burn, Zohreh Ketabi, Johanna Tecklenburg, Francisco Lopez-Koestner, Miriam Mints, Heike Görgens, Neil A J Ryan, Kate Green, Annika Auranen, Douglas Tjandra, Robert W. Haile, Marta Pineda, Tamara Alejandra Piñero, Stefan Aretz, Robert Hüneburg, Verena Steinke-Lange, Markus Loeffler, Christina Therkildsen, John L. Hopper, Deepak Vangala, Huw Thomas, Reinhard Büttner, James Hill, Einar Andreas Rødland, Revital Kariv, Maria Grazia Tibiletti, Sigve Nakken, Stefanie Holzapfel, D. Gareth Evans, Oliver G. Denton, Julian R. Sampson, Henrik Okkels, Joan Vidal, Loic Le Marchand, Hans Georg Strauß, Gabriela Möslein, Claudia Perne, Ingrid Winship, Nathan Gluck, Jane C. Figueiredo, Mev Dominguez-Valentin, Wolff Schmiegel, Karl Heinimann, Kirsi Pylvänäinen, Karin Alvarez, Maartje Nielsen, Wouter H. de Vos tot Nederveen Cappel, Fiona Lalloo, Aung Ko Win, Guy Rosner, Carlos A. Vaccaro, Polly A. Newcomb, Elke Holinski-Feder, John-Paul Plazzer, Lior H. Katz, Christoph Engel, Anna Lepistö, Jukka-Pekka Mecklin, Giulia Martina Cavestro, Adriana Della Valle, Finlay A. Macrae, Sanne W. ten Broeke, Florencia Neffa, Rolf H. Sijmons, María Laura Gonzalez, Nils Rahner, Jürgen Weitz, Hans F. A. Vasen, Stephen N. Thibodeau, Emma J Crosbie, Lucio Bertario, Steven Gallinger, Noralane M. Lindor, Pål Møller, Laura Renkonen-Sinisalo, Magnus von Knebel Doeberitz
Publikováno v:
Genetics in Medicine, 23(4), 705-712. Nature Publishing Group
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, W H D V T N, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rodland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, J R, Evans, D G, Seppala, T T & Moller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Gonzalez, M L, Kalfayan, P, Ryan, N, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705–712 . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicine, 23(4), 705-712. SPRINGERNATURE
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2020, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicine
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, W H D V T N, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rodland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, J R, Evans, D G, Seppala, T T & Moller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Gonzalez, M L, Kalfayan, P, Ryan, N, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705–712 . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicine, 23(4), 705-712. SPRINGERNATURE
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2020, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicine
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 ) variants. Methods The Prospective Lynch Syndrome Database
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9330a31f26a8ad6f652222a369c04f
https://research.rug.nl/en/publications/a17620ba-ac57-4302-a8cb-2039d74d0895
https://research.rug.nl/en/publications/a17620ba-ac57-4302-a8cb-2039d74d0895
Autor:
Philip Gunkel, E.P. Ramsay, Christoph Engel, Edward P. Morris, Michael Pilsl, Jerome Gouge, Alessandro Vannini, Julia L. Daiß, Fabienne Beuron, Helen King, G. Abascal-Palacios
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications
In eukaryotes, RNA Polymerase (Pol) III is specialized for the transcription of tRNAs and other short, untranslated RNAs. Pol III is a determinant of cellular growth and lifespan across eukaryotes. Upregulation of Pol III transcription is observed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e121678a73f70f7a2c33ce8e0043ef90
https://eprints.bbk.ac.uk/id/eprint/42478/1/41467_2020_Article_20262.pdf
https://eprints.bbk.ac.uk/id/eprint/42478/1/41467_2020_Article_20262.pdf
Autor:
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, Nadine Andrieu, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Katarzyna Białkowska, Amie M. Blanco, Marinus J. Blok, Bernardo Bonanni, Susanne E. Boonen, Åke Borg, Aniko Bozsik, Angela R. Bradbury, Paul Brennan, Carole Brewer, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen B.M. Claes, Chrystelle Colas, Marie-Agnès Collonge-Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret-Fourme, Hélène Schuster, Dominique Stoppa-Lyonnet, Antonis Antoniou, Jackie Cook, Rosemarie Davidson, Douglas Easton, Ros Eeles, D. Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-ren Ong, Lucy Side, Aoife O’Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Mary B. Daly, Miguel de la Hoya, Robin de Putter, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Bent Ejlertsen, Christoph Engel, Lenka Foretova, Florentia Fostira, Michael Friedlander, Eitan Friedman, Patricia A. Ganz, Judy Garber, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Anna González-Neira, Mark H. Greene, Daphne Gschwantler-Kaulich, Eric Hahnen, Ute Hamann, Julia Hentschel, Frans B.L. Hogervorst, Maartje J. Hooning, Judit Horvath, Chunling Hu, Peter J. Hulick, Evgeny N. Imyanitov, Georgia Chenevix-Trench, Kelly-Anne Phillips, Amanda Spurdle, Marinus Blok, Frans Hogervorst, Maartje Hooning, Marco Koudijs, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen, Catherine Noguès, Claudine Isaacs, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Karin Kast, Torben A. Kruse, Ava Kwong, Yael Laitman, Conxi Lazaro, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jennifer T. Loud, Jan Lubiński, Phuong L. Mai, Siranoush Manoukian, Hanne E.J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Austin Miller, Marco Montagna, Semanti Mukherjee, Anna Marie Mulligan, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn Cilius Nielsen, Liene Nikitina-Zake, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Laura Papi, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Paolo Peterlongo, Georg Pfeiler, Karolina Prajzendanc, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Gad Rennert, Harvey A. Risch, Mark Robson, Karina Rønlund, Ritu Salani, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Christian F. Singer, Thomas P. Slavin, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Doris Steinemann, Zoe Steinsnyder, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Darcy L. Thull, Silvia Tognazzo, Amanda E. Toland, Alison H. Trainer, Nadine Tung, Elizabeth J. van Rensburg, Ana Vega, Jeroen Vierstraete, Gabriel Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Siddhartha Yadav, Xin Yang, Drakoulis Yannoukakos, Dario Zimbalatti, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Antonis C. Antoniou
Publikováno v:
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Scientia
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Horvath, J, Nielsen, F C, Pedersen, I S, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, Mcguffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-rame, M, Cook, J, Daly, M B, Davidson, R, De La Hoya, M, De Putter, R, Delnatte, C, Devilee, P, Ejlertsen, B, Gerdes, A, Nielsen, F C & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M-A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, Y C & Pedersen, I S 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22(10), 1653-1666. Nature Publishing Group
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams & Wilkins
Genetics in Medicine, 22(10), 1653-1666. SPRINGERNATURE
Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L-L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Gerdes, A M, Kruse, T A, Pedersen, I S, Rønlund, K, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22, 1653-1666
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Dipòsit Digital de la UB
Universidad de Barcelona
GENETICS IN MEDICINE
Genetics in Medicine, 22, 10, pp. 1653-1666
Genetics in Medicine
Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Scientia
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Horvath, J, Nielsen, F C, Pedersen, I S, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, Mcguffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-rame, M, Cook, J, Daly, M B, Davidson, R, De La Hoya, M, De Putter, R, Delnatte, C, Devilee, P, Ejlertsen, B, Gerdes, A, Nielsen, F C & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M-A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, Y C & Pedersen, I S 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22(10), 1653-1666. Nature Publishing Group
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams & Wilkins
Genetics in Medicine, 22(10), 1653-1666. SPRINGERNATURE
Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L-L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Gerdes, A M, Kruse, T A, Pedersen, I S, Rønlund, K, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22, 1653-1666
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Dipòsit Digital de la UB
Universidad de Barcelona
GENETICS IN MEDICINE
Genetics in Medicine, 22, 10, pp. 1653-1666
Contains fulltext : 229292.pdf (Publisher’s version ) (Open Access) PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3029ddb1c317fd1f62f6f475f3d6664
https://research.vumc.nl/en/publications/df63a109-0100-470b-9379-c44745d8115d
https://research.vumc.nl/en/publications/df63a109-0100-470b-9379-c44745d8115d
Autor:
Gabriel Capellá, Patricia Esperon, Christoph Engel, Rolf H. Sijmons, María Laura Gonzalez, Matilde Navarro, Francisco López-Köstner, Julian R. Sampson, Miquel Serra-Burriel, Karin Alvarez, Ingrid Winship, Nathan Gluck, Lone Sunde, Reinhard Büttner, Giulia Martina Cavestro, Wouter H. de Vos tot Nederveen Cappel, Jukka-Pekka Mecklin, Marc S. Greenblatt, Kate Green, Robert Hüneburg, Markus Loeffler, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Florencia Neffa, Lucio Bertario, Ariadna Sánchez, Verena Steinke-Lange, Christina Therkildsen, Jane C. Figueiredo, Douglas Tjandra, Magnus von Knebel Doeberitz, Lior H. Katz, Steven Gallinger, Noralane M. Lindor, Gabriela Möslein, Adriana Della Valle, John L. Hopper, Einar Andreas Rødland, Miriam Mints, Annika Lindblom, Ian M. Frayling, Polly A. Newcomb, Pål Møller, Sanne W. ten Broeke, Laura Renkonen-Sinisalo, Sigve Nakken, Stefanie Holzapfel, Finlay A. Macrae, Stefan Aretz, Nils Rahner, Karin Wadt, Robert W. Haile, Francesc Balaguer, Revital Kariv, Stephen N. Thibodeau, Huw D. Thomas, Emma J Crosbie, Deepak Vangala, Monika Morak, Ignacio Blanco, Hans K. Schackert, Henrik Okkels, Mev Dominguez-Valentin, Oliver G. Denton, John-Paul Plazzer, Zohreh Ketabi, James Hill, Loic Le Marchand, Mark A. Jenkins, Inge Bernstein, D. Gareth Evans, Heike Görgens, Marta Pineda, John Burn, Kirsi Pylvänäinen, Eivind Hovig, Hans F. A. Vasen, Pablo Kalfayan, Toni T. Seppälä, Aung Ko Win, Maartje Nielsen, Wolff Schmiegel, Guy Rosner, Karl Heinimann, Fiona Lalloo, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira
Publikováno v:
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M & Okkels, H 2020, ' Correction : Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 9 . https://doi.org/10.1038/s41436-020-0892-4
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J-P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9
Dipòsit Digital de la UB
Universidad de Barcelona
Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Cancer risks by gene, age and gender in 6,350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0596-9
Genetics in Medicine, 22(1), 15-25. NATURE PUBLISHING GROUP
Genetics in Medicine
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, ten Broeke, S W, Plazzer, J P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9
Genetics in Medicine, 22(1), 15-25. Nature Publishing Group
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J-P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9
Dipòsit Digital de la UB
Universidad de Barcelona
Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Cancer risks by gene, age and gender in 6,350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0596-9
Genetics in Medicine, 22(1), 15-25. NATURE PUBLISHING GROUP
Genetics in Medicine
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, ten Broeke, S W, Plazzer, J P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9
Genetics in Medicine, 22(1), 15-25. Nature Publishing Group
Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347fa11199294fa0eb757b6ff6ba0788
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdf
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdf