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

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

by Shimelis, Hermela, Mesman, Romy LS, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calleja, Fabienne MGR, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomaki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Bruning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collee, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dork, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Garcia-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guenel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan JC, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Pauld DP, Pylkas, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C, Stram, Daniel O, Swerdlow, Anthony, Teo, Soo H, Tomlinson, Ian, Torres, Diana, Truong, Therese, van Asperen, Christi J, van der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wu, Anna H, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen BM, Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F, Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro NA, Goldgar, David E, Carreira, Aura, Vreeswijk, Maaike PG, Couch, Fergus J
Published 2021