The BRCA2 c.68-7T &gt; A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D.; Parsons, Michael T.; Li, Hongyan; Tudini, Emma; Mondini, Patrizia; Gomez Garcia, Encarna B.; Manoukian, Siranoush; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y.; Varesco, Liliana; Wappenschmidt, Barbara; Michailidou, Kyriaki; Wang, Qin; Marchand, Loic Le; García-Closas, Montserrat; Giles, Graham G.; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Caleca, Laura; Hamann, Ute; Hartman, Mikael; De Vecchi, Giovanna; Hauke, Jan; Foglia, Claudia; Hollestelle, Antoinette; Hopper, John L.; Behar, Raquel; Jakubowska, Anna; Garcia, Encarna B. Gómez; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loid; Bolla, Manjeet K.; Lindblom, Annika; Dennis, Joe; Lubinski, Jan; Mannermaa, Arto; Aittomäki, Kristiina; Margolin, Sara; Andrulis, Irene L.; Miao, Hui; Anton-Culver, Hoda; Milne, Roger L.; Arndt, Volker; Neuhausen, Susan L.; Beckmann, Matthias W.; Nevanlinna, Heli; Beeghly-Fadel, Alicia; Olson, Janet E.; Benitez, Javier; Peterlongo, Paolo; Boeckx, Bram; Peto, Julian; Bogdanova, Natalia V.; Pylkäs, Katri; Bojesen, Stig E.; Sawyer, Elinor J.; Bonanni, Bernardo; Schmidt, Marjanka K.; Brauch, Hiltrud; Schmutzler, Rita K.; Brenner, Hermann; Schneeweiss, Andreas; Burwinkel, Barbara; Schoemaker, Minouk J.; Chang-Claude, Jenny; See, Mee Hoong; Conroy, Don M.; Southey, Melissa C.; Couch, Fergus J.; Swerdlow, Anthony; Cox, Angela; Teo, Soo H.; Cross, Simon S.; Toland, Amanda E.; Czene, Kamila; Tomlinson, Ian; Devilee, Peter; Truong, Thérèse; de la Hoya, Miguel; Dörk, Thilo; van Asperen, Christi J.; Eriksson, Mikael; van den Ouweland, Ans M. W.; Fasching, Peter A.; van der Kolk, Lizet E.; Figueroa, Jonine; Winqvist, Robert; Fletcher, Olivia; Yannoukakos, Drakoulis; Flyger, Henrik; Zheng, Wei; Gabrielson, Marike; Henderson, Alex; Hogervorst, Frans B. L.; Izatt, Louise; Offitt, Kenneth; Side, Lucy E.; van Rensburg, Elizabeth J.; Hebon, Study; McGuffog, Lesley; Spurdle, Amanda B.; Goldgar, David E.; Hoya, Miguel de la; Radice, Paolo; Dunning, Alison M.; Easton, Douglas F.; Embrace, Study; Antoniou, Antonis C.; Chenevix-Trench, Georgia

Published in

Wiley, Human Mutation: Variation, Informatics and Disease, 5(39), p. 729-741, 2018

DOI: 10.1002/humu.23411

Tools

Export citation

Search in Google Scholar

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Journal article published in 2018 by Mara Colombo, Irene Lòpez-Perolio, Huong D. Meeks, Michael T. Parsons, Hongyan Li, Emma Tudini, Patrizia Mondini, Encarna B. Gomez Garcia, Siranoush Manoukian, Alfons Meindl, Marco Montagna, Dieter Niederacher, Ane Y. Schmidt, Liliana Varesco, Barbara Wappenschmidt and other authors.