Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Research output: Contribution to journalJournal articleResearchpeer-review

Miguel de la Hoya, Omar Soukarieh, Irene López-perolio, Ana Vega, Logan C Walker, Yvette Van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, Juul Wijnen, Philip Whiley, Ana Blanco, Michela Raponi, Jan Hauke, Barbara Wappenschmidt, Alexandra Becker, Thomas v O Hansen, Raquel Behar, Kconfab Investigators, Diether Niederacher & 55 others Norbert Arnold, Bernd Dworniczak, Doris Steinemann, Ulrike Faust, Wendy Rubinstein, Peter J Hulick, Claude Houdayer, Sandrine M. Caputo, Laurent Castera, Tina Pesaran, Elizabeth Chao, Carole Brewer, Melissa C Southey, Christi J van Asperen, Christian F Singer, Jan Sullivan, Nicola Poplawski, Phuong L Mai, Julian Peto, Nichola Johnson, Barbara Burwinkel, Harald M Surowy, Stig E. Bojesen, Henrik Flyger, Annika Lindblom, Sara Margolin, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Laura Galastri, Janet E Olson, Emily Hallberg, Graham Giles, Roger L Milne, Irene L Andrulis, Gord Glendon, Per Hall, Kamila Czene, Fiona Blows, Mitul Shah, Qin Wang, Joe Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K Bolla, Antonis C Antoniou, Douglas F Easton, Fergus J Couch, Sean Tavtigian, Maaike P Vreeswijk, Michael Parsons, Huong D Meeks, Alexandra Martins, David E Goldgar, Amanda B Spurdle

Original languageEnglish
JournalHuman Molecular Genetics
Volume25
Issue number11
Pages (from-to)2256-2268
ISSN0964-6906
DOIs
Publication statusPublished - 2016

ID: 176831209