Browsing Genetics by Author "Offitt, Kenneth"

Browsing Genetics by Author "Offitt, Kenneth"

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  • The BRCA2 c.68-7T > a variant is not pathogenic : a model for clinical calibration of spliceogenicity 
    Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Gómez Garci, Encarna B.; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y.; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K.; Dennis, Joe; Michailido, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmnn, Matthias W.; Beeghly-Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Chang-Claude, Jenny; Conroy, Don M.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; García-Closas, Montserrat; Giles, Graham G.; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L.; Jakubowska, Anna; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loid; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L.; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Peterlongo, Paolo; Peto, Julian; Pylkäs, Katri; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; See, Mee Hoong; Southey, Melissa C.; Swerdlow, Anthony; Teo, Soo H.; Toland, Amanda E.; Tomlinson, Ian; Truong, Therese; Van Asperen, Christi J.; Van den Ouweland, Ans M.W.; Van der Kolk, Lizet E.; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; Dunning, Alison M.; Easton, Douglas F.; Henderson, Alex; Hogervorst, Frans B.L.; Izatt, Louise; Offitt, Kenneth; Side, Lucy E.; Jansen van Rensburg, Elizabeth; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Goldgar, David E.; De la Hoya, Miguel; Radice, Paolo (Wiley, 2018-05)
    Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR ...