No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants...

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Publicado no:J Med Genet
Main Authors: Easton, Douglas F, Lesueur, Fabienne, Decker, Brennan, Michailidou, Kyriaki, Li, Jun, Allen, Jamie, Luccarini, Craig, Pooley, Karen A, Shah, Mitul, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R, Damiola, Francesca, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N, Ahmed, Shahana, Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Baynes, Caroline, Beckman, Matthias W, Benitez, Javier, Van Den Berg, David, Blot, William J, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hart, Steven N, Hartman, Mikael, Hooning, Maartje J, Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna, James, Paul A, John, Esther M, Johnson, Nichola, Jones, Michael, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether, Li, Na, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo, Phuah, Sze Yee, Pylkäs, Katri, Rowley, Simone M, Sangrajrang, Suleeporn, Schmutzler, Rita K, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony, Teo, Soo H, Tollenaar, Rob A E M, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Vachon, Celine, Verhoef, Senno, Wong-Brown, Michelle, Zheng, Wei, Zheng, Ying, Nevanlinna, Heli, Scott, Rodney J, Andrulis, Irene L, Wu, Anna H, Hopper, John L, Couch, Fergus J, Winqvist, Robert, Burwinkel, Barbara, Sawyer, Elinor J, Schmidt, Marjanka K, Rudolph, Anja, Dörk, Thilo, Brauch, Hiltrud, Hamann, Ute, Neuhausen, Susan L, Milne, Roger L, Fletcher, Olivia, Pharoah, Paul D P, Campbell, Ian G, Dunning, Alison M, Le Calvez-Kelm, Florence, Goldgar, David E, Tavtigian, Sean V, Chenevix-Trench, Georgia
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4938802/
https://ncbi.nlm.nih.gov/pubmed/26921362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103529
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