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

Miguel De La Hoya, O. Soukarieh, I. López-Perolio, A. Vega, Cheryl L. Walker, Y. van Ierland, Diana Baralle, Marta Santamariña, Vanessa Lattimore, J. T. Wijnen, Phillip Whiley, A. Blanco, M. Raponi, Jan Hauke, Barbara Wappenschmidt, A. Becker, Thomas v O Hansen, R. Behar, kConFab Investigators, Dieter NiederacherNorbert Arnold, Bernd Dworniczak, Doris Steinemann, U. Faust, Wendy Rubinstein, Peter J. Hulick, Claude Houdayer, S.M. Caputo, L. Castera, T. Pesaran, Esther Y. Chao, Cathy Brewer, Mellissa C. Southey, C. J. Van Asperen, Christian F. Singer, J. Sullivan, Nicola Poplawski, Phuong L. Mai, Julian Peto, N. Johnson, Barbara Burwinkel, Harald Surowy, Stig E. Bojesen, Henrik Flyger, A. Lindblom, Sara Margolin, Jenny Chang-Claude, Anja Rudolph, P. Radice, Laura Galastri, Janet E. Olson, Emily Hallberg, Graham G. Giles, Roger L. Milne, Irene L. Andrulis, Gord Glendon, Russell P. Hall, Kamila Czene, Fiona Blows, Pravin M. Shah, Q. Wang, Rowena J. Dennis, Kyriaki Michailidou, Lesley McGuffog, Manjeet K. Bolla, A. C. Antoniou, Douglas F. Easton, Fergus J. Couch, Sean V. Tavtigian, M. P. Vreeswijk, M. Parsons, Huong D. Meeks, A. Martins, David E. Goldgar, Amanda B. Spurdle

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)2256-2268
Number of pages13
JournalHuman Molecular Genetics
Volume25
Issue number11
DOIs
Publication statusPublished - 2016

Cite this

Hoya, M. D. L., Soukarieh, O., López-Perolio, I., Vega, A., Walker, C. L., van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J. T., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., Investigators, KC., ... Spurdle, A. B. (2016). 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. Human Molecular Genetics, 25(11), 2256-2268. https://doi.org/10.1093/hmg/ddw094