%0 Journal Article
%A Colombo, Mara
%A Lòpez-Perolio, Irene
%A Meeks, Huong D
%A Caleca, Laura
%A Parsons, Michael T
%A Li, Hongyan
%A De Vecchi, Giovanna
%A Tudini, Emma
%A Foglia, Claudia
%A Mondini, Patrizia
%A Manoukian, Siranoush
%A Behar, Raquel
%A Garcia, Encarna B Gómez
%A Meindl, Alfons
%A Montagna, Marco
%A Niederacher, Dieter
%A Schmidt, Ane Y
%A Varesco, Liliana
%A Wappenschmidt, Barbara
%A Bolla, Manjeet K
%A Dennis, Joe
%A Michailidou, Kyriaki
%A Wang, Qin
%A Aittomäki, Kristiina
%A Andrulis, Irene L
%A Anton-Culver, Hoda
%A Arndt, Volker
%A Beckmann, Matthias W
%A Beeghly-Fadel, Alicia
%A Benitez, Javier
%A Boeckx, Bram
%A Bogdanova, Natalia V
%A Bojesen, Stig E
%A Bonanni, Bernardo
%A Brauch, Hiltrud
%A Brenner, Hermann
%A Burwinkel, Barbara
%A Chang-Claude, Jenny
%A Conroy, Don M
%A Couch, Fergus J
%A Cox, Angela
%A Cross, Simon S
%A Czene, Kamila
%A Devilee, Peter
%A Dörk, Thilo
%A Eriksson, Mikael
%A Fasching, Peter A
%A Figueroa, Jonine
%A Fletcher, Olivia
%A Flyger, Henrik
%A Gabrielson, Marike
%A García-Closas, Montserrat
%A Giles, Graham G
%A González-Neira, Anna
%A Guénel, Pascal
%A Haiman, Christopher A
%A Hall, Per
%A Hamann, Ute
%A Hartman, Mikael
%A Hauke, Jan
%A Hollestelle, Antoinette
%A Hopper, John L
%A Jakubowska, Anna
%A Jung, Audrey
%A Kosma, Veli-Matti
%A Lambrechts, Diether
%A Le Marchand, Loid
%A Lindblom, Annika
%A Lubinski, Jan
%A Mannermaa, Arto
%A Margolin, Sara
%A Miao, Hui
%A Milne, Roger L
%A Neuhausen, Susan L
%A Nevanlinna, Heli
%A Olson, Janet E
%A Peterlongo, Paolo
%A Peto, Julian
%A Pylkäs, Katri
%A Sawyer, Elinor J
%A Schmidt, Marjanka K
%A Schmutzler, Rita K
%A Schneeweiss, Andreas
%A Schoemaker, Minouk J
%A See, Mee Hoong
%A Southey, Melissa C
%A Swerdlow, Anthony
%A Teo, Soo H
%A Toland, Amanda E
%A Tomlinson, Ian
%A Truong, Thérèse
%A van Asperen, Christi J
%A van den Ouweland, Ans M W
%A van der Kolk, Lizet E
%A Winqvist, Robert
%A Yannoukakos, Drakoulis
%A Zheng, Wei
%A Dunning, Alison M
%A Easton, Douglas F
%A Henderson, Alex
%A Hogervorst, Frans B L
%A Izatt, Louise
%A Offitt, Kenneth
%A Side, Lucy E
%A van Rensburg, Elizabeth J
%A Embrace, Study
%A Hebon, Study
%A McGuffog, Lesley
%A Antoniou, Antonis C
%A Chenevix-Trench, Georgia
%A Spurdle, Amanda B
%A Goldgar, David E
%A Hoya, Miguel de la
%A Radice, Paolo
%T The BRCA2 c.68-7T </td><td width="150">
%T gt; A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
%J Human mutation
%V 39
%N 5
%@ 1059-7794
%C New York, NY [u.a.]
%I Wiley-Liss
%M DKFZ-2018-00440
%P 729 - 741
%D 2018
%X 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 (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:29460995
%R 10.1002/humu.23411
%U https://inrepo02.dkfz.de/record/132796