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Thomassen, Mads and Mesman, Romy L. S. and Hansen, Thomas V. O. and Menendez, Mireia and Rossing, Maria and Esteban-Sanchez, Ada and Tudini, Emma and Torngren, Therese and Parsons, Michael T. and Pedersen, Inge S. and Teo, Soo Hwang and Kruse, Torben A. and Moller, Pal and Borg, Ake and Jensen, Uffe B. and Christensen, Lise L. and Singer, Christian F. and Muhr, Daniela and Santamarina, Marta and Brandao, Rita and Andresen, Brage S. and Feng, Bing-Jian and Canson, Daffodil and Richardson, Marcy E. and Karam, Rachid and Pesaran, Tina and LaDuca, Holly and Conner, Blair R. and Abualkheir, Nelly and Hoang, Lily and Calleja, Fabienne M. G. R. and Andrews, Lesley and James, Paul A. and Bunyan, Dave and Hamblett, Amanda and Radice, Paolo and Goldgar, David E. and Walker, Logan C. and Engel, Christoph and Claes, Kathleen B. M. and Machackova, Eva and Baralle, Diana and Viel, Alessandra and Wappenschmidt, Barbara and Lazaro, Conxi and Vega, Ana and Vreeswijk, Maaike P. G. and de la Hoya, Miguel and Spurdle, Amanda B. (2022) Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach. HUMAN MUTATION, 43 (12). pp. 1921-1944. ISSN 1098-1004, DOI https://doi.org/10.1002/humu.24449.
Dorling, Leila and Carvalho, Sara and Allen, Jamie and Parsons, Michael T. and Fortuno, Cristina and Gonzalez-Neira, Anna and Heijl, Stephan M. and Adank, Muriel A. and Ahearn, Thomas U. and Andrulis, Irene L. and Auvinen, Paivi and Becher, Heiko and Beckmann, Matthias W. and Behrens, Sabine and Bermisheva, Marina and Bogdanova, Natalia V. and Bojesen, Stig E. and Bolla, Manjeet K. and Bremer, Michael and Briceno, Ignacio and Camp, Nicola J. and Campbell, Archie and Castelao, Jose E. and Chang-Claude, Jenny and Chanock, Stephen J. and Chenevix-Trench, Georgia and Collee, J. Margriet and Czene, Kamila and Dennis, Joe and Dork, Thilo and Eriksson, Mikael and Evans, D. Gareth and Fasching, Peter A. and Figueroa, Jonine and Flyger, Henrik and Gabrielson, Marike and Gago-Dominguez, Manuela and Garcia-Closas, Montserrat and Giles, Graham G. and Glendon, Gord and Guenel, Pascal and Gundert, Melanie and Hadjisavvas, Andreas and Hahnen, Eric and Hall, Per and Hamann, Ute and Harkness, Elaine F. and Hartman, Mikael and Hogervorst, Frans B. L. and Hollestelle, Antoinette and Hoppe, Reiner and Howell, Anthony and Jakubowska, Anna and Jung, Audrey and Khusnutdinova, Elza and Kim, Sung-Won and Ko, Yon-Dschun and Kristensen, Vessela N. and Lakeman, Inge M. M. and Li, Jingmei and Lindblom, Annika and Loizidou, Maria A. and Lophatananon, Artitaya and Lubinski, Jan and Luccarini, Craig and Madsen, Michael J. and Mannermaa, Arto and Manoochehri, Mehdi and Margolin, Sara and Mavroudis, Dimitrios and Milne, Roger L. and Mohd Taib, Nur Aishah and Muir, Kenneth and Nevanlinna, Heli and Newman, William G. and Oosterwijk, Jan C. and Park, Sue K. and Peterlongo, Paolo and Radice, Paolo and Saloustros, Emmanouil and Sawyer, Elinor J. and Schmutzler, Rita K. and Shah, Mitul and Sim, Xueling and Southey, Melissa C. and Surowy, Harald and Suvanto, Maija and Tomlinson, Ian and Torres, Diana and Truong, Therese and van Asperen, Christi J. and Waltes, Regina and Wang, Qin and Yang, Xiaohong R. and Pharoah, Paul D. P. and Schmidt, Marjanka K. and Benitez, Javier and Vroling, Bas and Dunning, Alison M. and Teo, Soo Hwang and Kvist, Anders and de la Hoya, Miguel and Devilee, Peter and Spurdle, Amanda B. and Vreeswijk, Maaike P. G. and Easton, Douglas F. and Collaborators, NBCS and Investigators, KConFab and Investigators, SGBCC (2022) Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Medicine, 14 (1). ISSN 1756-994X, DOI https://doi.org/10.1186/s13073-022-01052-8.
Li, Shuai and Silvestri, Valentina and Leslie, Goska and Rebbeck, Timothy R. and Neuhausen, Susan L. and Hopper, John L. and Nielsen, Henriette Roed and Lee, Andrew and Yang, Xin and McGuffog, Lesley and Parsons, Michael T. and Andrulis, Irene L. and Arnold, Norbert and Belotti, Muriel and Borg, Ake and Buecher, Bruno and Buys, Saundra S. and Caputo, Sandrine M. and Chung, Wendy K. and Colas, Chrystelle and Colonna, Sarah and Cook, Jackie and Daly, Mary B. and de la Hoya, Miguel and de Pauw, Antoine and Delhomelle, Helene and Eason, Jacqueline and Engel, Christoph and Evans, D. Gareth and Faust, Ulrike and Fehm, Tanja N. and Fostira, Florentia and Fountzilas, George and Frone, Megan and Garcia-Barberan, Vanesa and Garre, Pilar and Gauthier-Villars, Marion and Gehrig, Andrea and Glendon, Gord and Goldgar, David E. and Golmard, Lisa and Greene, Mark H. and Hahnen, Eric and Hamann, Ute and Hanson, Helen and Hassan, Tiara and Hentschel, Julia and Horvath, Judit and Izatt, Louise and Janavicius, Ramunas and Jiao, Yue and John, Esther M. and Karlan, Beth Y. and Kim, Sung-Won and Konstantopoulou, Irene and Kwong, Ava and Lauge, Anthony and Lee, Jong Won and Lesueur, Fabienne and Mebirouk, Noura and Meindl, Alfons and Mouret-Fourme, Emmanuelle and Musgrave, Hannah and Yie, Joanne Ngeow Yuen and Niederacher, Dieter and Park, Sue K. and Pedersen, Inge Sokilde and Ramser, Juliane and Ramus, Susan J. and Rantala, Johanna and Rashid, Muhammad U. and Reichl, Florian and Ritter, Julia and Rump, Andreas and Santamarina, Marta and Saule, Claire and Schmidt, Gunnar and Schmutzler, Rita K. and Senter, Leigha and Shariff, Saba and Singer, Christian F. and Southey, Melissa C. and Stoppa-Lyonnet, Dominique and Sutter, Christian and Tan, Yen and Teo, Soo Hwang and Terry, Mary Beth and Thomassen, Mads and Tischkowitz, Marc and Toland, Amanda E. and Torres, Diana and Vega, Ana and Wagner, Sebastian A. and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Weber, Bernhard H. F. and Yannoukakos, Drakoulis and Spurdle, Amanda B. and Easton, Douglas F. and Chenevix-Trench, Georgia and Ottini, Laura and Antoniou, Antonis C. (2022) Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of Clinical Oncology, 40 (14). 1529+. ISSN 0732-183X, DOI https://doi.org/10.1200/JCO.21.02112.
Mavaddat, Nasim and Dorling, Leila and Carvalho, Sara and Allen, Jamie and Gonzalez-Neira, Anna and Keeman, Renske and Bolla, Manjeet K. and Dennis, Joe and Wang, Qin and Ahearn, Thomas U. and Andrulis, Irene L. and Beckmann, Matthias W. and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Blomqvist, Carl and Bogdanova, Natalia and Bojesen, Stig E. and Briceno, Ignacio and Bruning, Thomas and Camp, Nicola J. and Campbell, Archie and Castelao, Jose E. and Chang-Claude, Jenny and Chanock, Stephen J. and Chenevix-Trench, Georgia and Christiansen, Hans and Czene, Kamila and Dork, Thilo and Eriksson, Mikael and Evans, D. Gareth and Fasching, Peter A. and Figueroa, Jonine D. and Flyger, Henrik and Gabrielson, Marike and Gago-Dominguez, Manuela and Geisler, Jurgen and Giles, Graham G. and Guenel, Pascal and Hadjisavvas, Andreas and Hahnen, Eric and Hall, Per and Hamann, Ute and Hartikainen, Jaana M. and Hartman, Mikael and Hoppe, Reiner and Howell, Anthony and Jakubowska, Anna and Jung, Audrey and Khusnutdinova, Elza K. and Kristensen, Vessela N. and Li, Jingmei and Lim, Swee Ho and Lindblom, Annika and Loizidou, Maria A. and Lophatananon, Artitaya and Lubinski, Jan and Madsen, Michael J. and Mannermaa, Arto and Manoochehri, Mehdi and Margolin, Sara and Mavroudis, Dimitrios and Milne, Roger L. and Mohd Taib, Nur Aishah and Morra, Anna and Muir, Kenneth and Obi, Nadia and Osorio, Ana and Park-Simon, Tjoung-Won and Peterlongo, Paolo and Radice, Paolo and Saloustros, Emmanouil and Sawyer, Elinor J. and Schmutzler, Rita K. and Shah, Mitul and Sim, Xueling and Southey, Melissa C. and Thorne, Heather and Tomlinson, Ian and Torres, Diana and Truong, Therese and Yip, Cheng Har and Spurdle, Amanda B. and Vreeswijk, Maaike P. G. and Dunning, Alison M. and Garcia-Closas, Montserrat and Pharoah, Paul D. P. and Kvist, Anders and Muranen, Taru A. and Nevanlinna, Heli and Teo, Soo Hwang and Devilee, Peter and Schmidt, Marjanka K. and Easton, Douglas F. and Consortium, Breast Canc Assoc (2022) Pathology of tumors associated with Pathogenic Germline Variants in 9 breast cancer susceptibility genes. JAMA Oncology, 8 (3). ISSN 2374-2437, DOI https://doi.org/10.1001/jamaoncol.2021.6744.
