Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

by Thomassen, Mads, Mesman, Romy L. S., Hansen, Thomas V. O., Menendez, Mireia, Rossing, Maria, Esteban-Sanchez, Ada, Tudini, Emma, Torngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo Hwang, Kruse, Torben A., Moller, Pal, Borg, Ake, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing-Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calleja, Fabienne M. G. R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B. M., Machackova, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Spurdle, Amanda B.
Published 2022

Pathology of tumors associated with Pathogenic Germline Variants in 9 breast cancer susceptibility genes

by Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, Gonzalez-Neira, Anna, Keeman, Renske, Bolla, Manjeet K., Dennis, Joe, Wang, Qin, Ahearn, Thomas U., Andrulis, Irene L., Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia, Bojesen, Stig E., Briceno, Ignacio, Bruning, Thomas, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jurgen, Giles, Graham G., Guenel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M., Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K., Kristensen, Vessela N., Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Therese, Yip, Cheng Har, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Dunning, Alison M., Garcia-Closas, Montserrat, Pharoah, Paul D. P., Kvist, Anders, Muranen, Taru A., Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K., Easton, Douglas F., Consortium, Breast Canc Assoc
Published 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

by Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collee, J. Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., Easton, Douglas F., Collaborators, NBCS, Investigators, KConFab, Investigators, SGBCC
Published 2022

ENIGMA CHEK2gether project: a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

by Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N. A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B. M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Published 2024

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

by Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T, Fortuno, Cristina, Gonzalez-Neira, Anna, Heijl, Stephan M, Adank, Muriel A, Ahearn, Thomas U, Andrulis, Irene L, Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bremer, Michael, Briceno, Ignacio, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Collee, J Margriet, Czene, Kamila, Dennis, Joe, Dork, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Garcia-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guenel, Pascal, Gundert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartman, Mikael, Hogervorst, Frans BL, Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N, Lakeman, Inge MM, Li, Jingmei, Lindblom, Annika, Loizidou, Maria A, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G, Oosterwijk, Jan C, Park, Sue K, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sim, Xueling, Southey, Melissa C, Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J, Waltes, Regina, Wang, Qin, Yang, Xiaohong R, Pharoah, Paul DP, Schmidt, Marjanka K, Benitez, Javier, Vroling, Bas, Dunning, Alison M, Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B, Vreeswijk, Maaike PG, Easton, Douglas F
Published 2023

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

by Glubb, Dylan M., Thompson, Deborah J., Aben, Katja K. H., Alsulimani, Ahmad, Amant, Frederic, Annibali, Daniela, Attia, John, Barricarte, Aurelio, Beckmann, Matthias W., Berchuck, Andrew, Bermisheva, Marina, Bernardini, Marcus Q., Bischof, Katharina, Bjorge, Line, Bodelon, Clara, Brand, Alison H., Brenton, James D., Brinton, Louise A., Bruinsma, Fiona, Buchanan, Daniel D., Burghaus, Stefanie, Butzow, Ralf, Cai, Hui, Carney, Michael E., Chanock, Stephen J., Chen, Chu, Chen, Xiao Qing, Chen, Zhihua, Cook, Linda S., Cunningham, Julie M., De Vivo, Immaculata, DeFazio, Anna, Doherty, Jennifer A., Dork, Thilo, du Bois, Andreas, Dunning, Alison M., Durst, Matthias, Edwards, Todd, Edwards, Robert P., Ekici, Arif B., Ewing, Ailith, Fasching, Peter A., Ferguson, Sarah, Flanagan, James M., Fostira, Florentia, Fountzilas, George, Friedenreich, Christine M., Gao, Bo, Gaudet, Mia M., Gawelko, Jan, Gentry-Maharaj, Aleksandra, Giles, Graham G., Glasspool, Rosalind, Goodman, Marc T., Gronwald, Jacek, Harris, Holly R., Harter, Philipp, Hein, Alexander, Heitz, Florian, Hildebrandt, Michelle A. T., Hillemanns, Peter, Hogdall, Estrid, Hogdall, Claus K., Holliday, Elizabeth G., Huntsman, David G., Huzarski, Tomasz, Jakubowska, Anna, Jensen, Allan, Jones, Michael E., Karlan, Beth Y., Karnezis, Anthony, Kelley, Joseph L., Khusnutdinova, Elza, Killeen, Jeffrey L., Kjaer, Susanne K., Klapdor, Rudiger, Kobel, Martin, Konopka, Bozena, Konstantopoulou, Irene, Kopperud, Reidun K., Koti, Madhuri, Kraft, Peter, Kupryjanczyk, Jolanta, Lambrechts, Diether, Larson, Melissa C., Le Marchand, Loic, Lele, Shashikant, Lester, Jenny, Li, Andrew J., Liang, Dong, Liebrich, Clemens, Lipworth, Loren, Lissowska, Jolanta, Lu, Lingeng, Lu, Karen H., Macciotta, Alessandra, Mattiello, Amalia, May, Taymaa, McAlpine, Jessica N., McGuire, Valerie, McNeish, Iain A., Menon, Usha, Modugno, Francesmary, Moysich, Kirsten B., Nevanlinna, Heli, Odunsi, Kunle, Olsson, Hakan, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Park-Simon, Tjoung-Won, Pearce, Celeste L., Pejovic, Tanja, Permuth, Jennifer B., Podgorska, Agnieszka, Ramus, Susan J., Rebbeck, Timothy R., Riggan, Marjorie J., Risch, Harvey A., Rothstein, Joseph H., Runnebaum, Ingo B., Scott, Rodney J., Sellers, Thomas A., Senz, Janine, Setiawan, Veronica Wendy, Siddiqui, Nadeem, Sieh, Weiva, Spiewankiewicz, Beata, Sutphen, Rebecca, Swerdlow, Anthony J., Szafron, Lukasz Michael, Teo, Soo Hwang, Thompson, Pamela J., Thomsen, Liv Cecilie Vestrheim, Titus, Linda, Tone, Alicia, Tumino, Rosario, Turman, Constance, Vanderstichele, Adriaan, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A., Wang, Zhaoming, Wang-Gohrke, Shan, Webb, Penelope M., White, Emily, Whittemore, Alice S., Winham, Stacey J., Wu, Xifeng, Wu, Anna H., Yannoukakos, Drakoulis, Spurdle, Amanda B., O'Mara, Tracy A., Grp, OPAL Study, Grp, AOCS
Published 2021

Breast cancer risk genes - association analysis in more than 113,000 women

by Dorling, Leila, Carvalho, Sara, Allen, Jamie, Gonzalez-Neira, Anna, Luccarini, Craig, Wahlstrom, Cecilia, Pooley, Karen A., Parsons, Michael T., Fortuno, Cristina, Wang, Qin, Bolla, Manjeet K., Dennis, Joe, Keeman, Renske, Alonso, M. Rosario, Alvarez, Nuria, Herraez, Belen, Fernandez, Victoria, Nunez-Torres, Rocio, Osorio, Ana, Valcich, Jeanette, Li, Minerva, Torngren, Therese, Harrington, Patricia A., Baynes, Caroline, Conroy, Don M., Decker, Brennan, Fachal, Laura, Mavaddat, Nasim, Ahearn, Thomas, Aittomaki, Kristiina, Antonenkova, Natalia N., Arnold, Norbert, Arveux, Patrick, Ausems, Margreet G. E. M., Auvinen, Paivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bialkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V., Bogdanova-Markov, Nadja, Bojesen, Stig E., Bonanni, Bernardo, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Briceno, Ignacio, Bruning, Thomas, Burwinkel, Barbara, Cameron, David A., Camp, Nicola J., Campbell, Archie, Carracedo, Angel, Castelao, Jose E., Cessna, Melissa H., Chanock, Stephen J., Christiansen, Hans, Collee, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Czene, Kamila, Doerk, Thilo, Ekici, Arif B., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Foersti, Asta, Gabrielson, Marike, Gago-Dominguez, Manuela, Georgoulias, Vassilios, Gil, Fabian, Giles, Graham G., Glendon, Gord, Garcia, Encarna B. Gomez, Alnaes, Grethe I. Grenaker, Guenel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Ho, Weang Kee, Hooning, Maartje J., Howell, Anthony, Humphreys, Keith, Idris, Faiza, Jakubowska, Anna, Jung, Audrey, Kapoor, Pooja Middha, Kerin, Michael J., Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kosma, Veli-Matti, Kristensen, Vessela N., Kyriacou, Kyriacos, Lakeman, Inge M. M., Lee, Jong Won, Lee, Min Hyuk, Li, Jingmei, Lindblom, Annika, Lo, Wing-Yee, Loizidou, Maria A., Lophatananon, Artitaya, Lubinski, Jan, MacInnis, Robert J., Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Mensenkamp, Arjen R., Michailidou, Kyriaki, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G., Nordestgaard, Borge G., Ng, Pei-Sze, Oosterwijk, Jan C., Park, Sue K., Park-Simon, Tjoung-Won, Perez, Jose I. A., Peterlongo, Paolo, Porteous, David J., Prajzendanc, Karolina, Prokofyeva, Darya, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Rookus, Matti A., Rudiger, Thomas, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schneeweiss, Andreas, Schurmann, Peter, Shah, Mitul, Sohn, Christof, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Thanasitthichai, Somchai, Tomlinson, Ian, Torres, Diana, Truong, Therese, Tzardi, Maria, Valova, Yana, van Asperen, Christi J., Van Dam, Rob M., van den Ouweland, Ans M. W., van der Kolk, Lizet E., van Veen, Elke M., Wendt, Camilla, Williams, Justin A., Yang, Xiaohong R., Yoon, Sook-Yee, Zamora, M. Pilar, Evans, D. Gareth, de la Hoya, Miguel, Simard, Jacques, Antoniou, Antonis C., Borg, Ake, Andrulis, Irene L., Chang-Claude, Jenny, Garcia-Closas, Montserrat, Chenevix-Trench, Georgia, Milne, Roger L., Pharoah, Paul D. P., Schmidt, Marjanka K., Spurdle, Amanda B., Vreeswijk, Maaike P. G., Benitez, Javier, Dunning, Alison M., Kvist, Anders, Teo, Soo H., Devilee, Peter, Easton, Douglas F., Consortium, Breast Canc Assoc
Published 2021