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

Autor: Pål Møller, Toni Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez-Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capella, Dafydd Gareth Evans, John Burn, Elke Holinski-Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John-Paul Plazzer, Rolf Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior Katz, Ido Laish, Elez Vainer, Carlos Alberto Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu-Freha, Aine Stakelum, Rory Kennelly, Des Winter, Benedito Mauro Rossi, Marc Greenblatt, Mabel Bohorquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino-Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana Nascimento, Norma Teresa Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepisto, Päivi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius-Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aída Falcón de Vargas, Andrew Latchford, Anne-Marie Gerdes, Ann-Sofie Backman, Carmen Guillén-Ponce, Carrie Snyder, Charlotte K. Lautrup, David Amor, Edenir Palmero, Elena Stoffel, Floor Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette Reece, Joanne Ngeow, Jose G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene J. Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija R. J. Kohonen-Corish, Marjolijn J. L. Ligtenberg, Melissa Southey, Melyssa Aronson, Mohd N. Zahary, N. Jewel Samadder, Nicola Poplawski, Nicoline Hoogerbrugge, Patrick J. Morrison, Paul James, Grant Lee, Rakefet Chen-Shtoyerman, Ravindran Ankathil, Rish Pai, Robyn Ward, Susan Parry, Tadeusz Dębniak, Thomas John, Thomas van Overeem Hansen, Trinidad Caldés, Tatsuro Yamaguchi, Verónica Barca-Tierno, Pilar Garre, Giulia Martina Cavestro, Jürgen Weitz, Silke Redler, Reinhard Büttner, Vincent Heuveline, John L. Hopper, Aung Ko Win, Noralane Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Sanne W. ten Broeke, Eivind Hovig, Sigve Nakken, Marta Pineda, Nuria Dueñas, Joan Brunet, Kate Green, Fiona Lalloo, Katie Newton, Emma J. Crosbie, Miriam Mints, Douglas Tjandra, Florencia Neffa, Patricia Esperon, Revital Kariv, Guy Rosner, Walter Hernán Pavicic, Pablo Kalfayan, Giovana Tardin Torrezan, Thiago Bassaneze, Claudia Martin, Gabriela Moslein, Aysel Ahadova, Matthias Kloor, Julian R. Sampson, Mark A. Jenkins, The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 20, Iss 1, Pp 1-11 (2022)

Abstract Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC

Externí odkaz: https://doaj.org/article/b931c1477d4f40ef8fbc4e978abfdf69

Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Autor: David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, Daniel J. Park

PDF file 65K, Primers used in assessment of RINT1 transcripts

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0901f03f8caef7fce50cb83dbd9ef89
https://doi.org/10.1158/2159-8290.22530813

Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers

Autor: David E. Goldgar, Melissa C. Southey, Sean V. Tavtigian, Fabienne Lesueur, Bing-Jian Feng, John L. Hopper, Graham G. Giles, Peter Devilee, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary Daly, Mary B. Terry, Irene L. Andrulis, Esther M. John, Igor V. Makunin, Jun Li, Jonathan Ellis, Chad D. Huff, Hao Hu, Russell Bell, Terrell C. Roane, Bernard J. Pope, Andrew Lonie, Catherine Voegele, Erin L. Young, Louise B. Thingholm, Zhi L. Teo, Helen Tsimiklis, Fabrice Odefrey, Fleur Hammet, Nivonirina Robinot, Tu Nguyen-Dumont, Florence Le Calvez-Kelm, Kayoko Tao, Daniel J. Park

PDF file 69K, Distribution of cases and controls included in the analysis, by study center and ethnic group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf450405297aeeb9fab41c73ee2deff
https://doi.org/10.1158/2159-8290.22530819.v1

Supplementary Figure S1 from Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma

Autor: Steven M. Lipkin, Leandro Cerchietti, Haiyuan Yu, Robert J. Klein, Kenneth Offit, Nicola J. Camp, Charles G. Mullighan, Henry T. Lynch, Charles Dumontet, Robert G. Roeder, Mark J. Daly, Kenneth C. Anderson, Judy E. Garber, Jane Churpek, Lucy A. Godley, Susan L. Slager, Ola Landgren, Ruben Niesvizky, Djordje Atanackovic, Mohamed Salama, Karen Curtin, Selina Chen-Kiang, Jude Phillip, Jayeshkumar Patel, Agnes Viale, Mykyta Artomov, Rosalie G. Waller, Dina Becirovic, Lauren M. Jacobs, David S. Jayabalan, Shu-Ping Wang, James D. McKay, Celine M. Vachon, Carrie Snyder, Vijai Joseph, Kim E. Nichols, Michael F. Walsh, Jinghui Zhang, Jian Sun, Maria V. Revuelta, Gang Wu, Siwei Chen, M. Nieves Calvo-Vidal, Xiaomu Wei

PCA and gene based rare synonymous variant comparison analyses of European ancestry Multiple Myeloma cases and controls

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6edc68f473dc9ce25d3205f8329f86
https://doi.org/10.1158/0008-5472.22415844

Supplementary Data from Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma

Autor: Steven M. Lipkin, Leandro Cerchietti, Haiyuan Yu, Robert J. Klein, Kenneth Offit, Nicola J. Camp, Charles G. Mullighan, Henry T. Lynch, Charles Dumontet, Robert G. Roeder, Mark J. Daly, Kenneth C. Anderson, Judy E. Garber, Jane Churpek, Lucy A. Godley, Susan L. Slager, Ola Landgren, Ruben Niesvizky, Djordje Atanackovic, Mohamed Salama, Karen Curtin, Selina Chen-Kiang, Jude Phillip, Jayeshkumar Patel, Agnes Viale, Mykyta Artomov, Rosalie G. Waller, Dina Becirovic, Lauren M. Jacobs, David S. Jayabalan, Shu-Ping Wang, James D. McKay, Celine M. Vachon, Carrie Snyder, Vijai Joseph, Kim E. Nichols, Michael F. Walsh, Jinghui Zhang, Jian Sun, Maria V. Revuelta, Gang Wu, Siwei Chen, M. Nieves Calvo-Vidal, Xiaomu Wei

Additional methods, statistical and resource information to assist readers about how experiments and analyses were conducted.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7316162caa1627111ed388b4cc0633
https://doi.org/10.1158/0008-5472.22415847