A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Autor: Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Muriel A. Adank, Simona Agata, Thomas Ahearn, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Banu K. Arun, Annelie Augustinsson, Jacopo Azzollini, Daniel Barrowdale, Caroline Baynes, Heko Becher, Marina Bermisheva, Leslie Bernstein, Katarzyna Białkowska, Carl Blomqvist, Stig E. Bojesen, Bernardo Bonanni, Ake Borg, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Daniele Campa, Brian D. Carter, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Christine L. Clarke, GEMO Study Collaborators, EMBRACE Collaborators, J. Margriet Collée, Don M. Conroy, Kamila Czene, Mary B. Daly, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Thilo Dörk, Isabel dos-Santos-Silva, Alison M. Dunning, Miriam Dwek, Diana M. Eccles, A. Heather Eliassen, Christoph Engel, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Henrik Flyger, Florentia Fostira, Eitan Friedman, Lin Fritschi, Debra Frost, Manuela Gago-Dominguez, Susan M. Gapstur, Judy Garber, Vanesa Garcia-Barberan, Montserrat García-Closas, José A. García-Sáenz, Mia M. Gaudet, Simon A. Gayther, Andrea Gehrig, Vassilios Georgoulias, Graham G. Giles, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González-Neira, Mark H. Greene, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Håkansson, Per Hall, Ute Hamann, Patricia A. Harrington, Steven N. Hart, Wei He, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Darling J. Horcasitas, Peter J. Hulick, David J. Hunter, Evgeny N. Imyanitov, KConFab Investigators, HEBON Investigators, ABCTB Investigators, Agnes Jager, Anna Jakubowska, Paul A. James, Uffe Birk Jensen, Esther M. John, Michael E. Jones, Rudolf Kaaks, Pooja Middha Kapoor, Beth Y. Karlan, Renske Keeman, Elza Khusnutdinova, Johanna I. Kiiski, Yon-Dschun Ko, Veli-Matti Kosma, Peter Kraft, Allison W. Kurian, Yael Laitman, Diether Lambrechts, Loic Le Marchand, Jenny Lester, Fabienne Lesueur, Tricia Lindstrom, Adria Lopez-Fernández, Jennifer T. Loud, Craig Luccarini, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, John W. M. Martens, Noura Mebirouk, Alfons Meindl, Austin Miller, Roger L. Milne, Marco Montagna, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Finn C. Nielsen, Katie M. O’Brien, Olufunmilayo I. Olopade, Janet E. Olson, Håkan Olsson, Ana Osorio, Laura Ottini, Tjoung-Won Park-Simon, Michael T. Parsons, Inge Sokilde Pedersen, Beth Peshkin, Paolo Peterlongo, Julian Peto, Paul D. P. Pharoah, Kelly-Anne Phillips, Eric C. Polley, Bruce Poppe, Nadege Presneau, Miquel Angel Pujana, Kevin Punie, Paolo Radice, Johanna Rantala, Muhammad U. Rashid, Gad Rennert, Hedy S. Rennert, Mark Robson, Atocha Romero, Maria Rossing, Emmanouil Saloustros, Dale P. Sandler, Regina Santella, Maren T. Scheuner, Marjanka K. Schmidt, Gunnar Schmidt, Christopher Scott, Priyanka Sharma, Penny Soucy, Melissa C. Southey, John J. Spinelli, Zoe Steinsnyder, Jennifer Stone, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Mary Beth Terry, Alex Teulé, Darcy L. Thull, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Alison H. Trainer, Thérèse Truong, Nadine Tung, Celine M. Vachon, Ana Vega, Joseph Vijai, Qin Wang, Barbara Wappenschmidt, Clarice R. Weinberg, Jeffrey N. Weitzel, Camilla Wendt, Alicja Wolk, Siddhartha Yadav, Xiaohong R. Yang, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Kristin K. Zorn, Sue K. Park, Mads Thomassen, Kenneth Offit, Rita K. Schmutzler, Fergus J. Couch, Jacques Simard, Georgia Chenevix-Trench, Douglas F. Easton, Nadine Andrieu, Antonis C. Antoniou

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-22 (2021)

Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation c

Externí odkaz: https://doaj.org/article/a26ed9dc06884844b6173e2662499c7f

NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects

Autor: Sami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, Guillermo Palou-Márquez, Vignesh Ravichandran, Zoe Steinsnyder, Temima Wildman, Amanda Catchings, Yelena Kemel, Semanti Mukherjee, Benjamin Fesko, Kanika Arora, Miika Mehine, Sita Dandiker, Aalin Izhar, John Petrini, Susan Domchek, Katherine L. Nathanson, Jamie Brower, Fergus Couch, Zsofia Stadler, Mark Robson, Michael Walsh, Joseph Vijai, Michael Berger, Fran Supek, Rachid Karam, Sabine Topka, Kenneth Offit

Publikováno v: Clinical Cancer Research. 29:422-431

Purpose: To explore the role of NBN as a pan-cancer susceptibility gene. Experimental Design: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6765ccc4641ab647bf5501bae4821a3
https://doi.org/10.1158/1078-0432.ccr-22-1703

Data from NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects

Autor: Kenneth Offit, Sabine Topka, Rachid Karam, Fran Supek, Michael Berger, Joseph Vijai, Michael Walsh, Mark Robson, Zsofia Stadler, Fergus Couch, Jamie Brower, Katherine L. Nathanson, Susan Domchek, John Petrini, Aalin Izhar, Sita Dandiker, Miika Mehine, Kanika Arora, Benjamin Fesko, Semanti Mukherjee, Yelena Kemel, Amanda Catchings, Temima Wildman, Zoe Steinsnyder, Vignesh Ravichandran, Guillermo Palou-Márquez, Chaitanya Bandlamudi, Aliya Khurram, Sami Belhadj

Purpose:To explore the role of NBN as a pan-cancer susceptibility gene.Experimental Design:Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200403439bb586cbeb17c3f2103efbec
https://doi.org/10.1158/1078-0432.c.6532968

Supplementary Data from Targeting Germline- and Tumor-Associated Nucleotide Excision Repair Defects in Cancer

Autor: Kenneth Offit, Joseph Vijai, Elisa de Stanchina, Barry S. Taylor, Jonathan E. Rosenberg, Dean F. Bajorin, Michael F. Berger, David B. Solit, Semanti Mukherjee, Steven M. Lipkin, Gopa Iyer, Charles M. Rudin, Ouathek Ouerfelli, Helena Furberg, Mogens Winkel Madsen, Chaitanya Bandlamudi, Yelena Kemel, Kaitlyn Tkachuk, Vignesh Ravichandran, Zoe Steinsnyder, Sabine Topka

Supplementary Methods, Supplementary Figures S1-S11, Supplementary Tables S1, S6, S8-11

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::294a79ae415a08b5a67bd31b76b28290
https://doi.org/10.1158/1078-0432.22483667

Data from Targeting Germline- and Tumor-Associated Nucleotide Excision Repair Defects in Cancer

Autor: Kenneth Offit, Joseph Vijai, Elisa de Stanchina, Barry S. Taylor, Jonathan E. Rosenberg, Dean F. Bajorin, Michael F. Berger, David B. Solit, Semanti Mukherjee, Steven M. Lipkin, Gopa Iyer, Charles M. Rudin, Ouathek Ouerfelli, Helena Furberg, Mogens Winkel Madsen, Chaitanya Bandlamudi, Yelena Kemel, Kaitlyn Tkachuk, Vignesh Ravichandran, Zoe Steinsnyder, Sabine Topka

Purpose:Nucleotide excision repair (NER) gene alterations constitute potential cancer therapeutic targets. We explored the prevalence of NER gene alterations across cancers and putative therapeutic strategies targeting these vulnerabilities.Experimen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158840c87234a326775e0a98f9189aab
https://doi.org/10.1158/1078-0432.c.6531197