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
- Author(s):
- Hoya, M. de la; Soukarieh, O.; Lopez-Perolio, I.; Vega, A.; Walker, L.C.; Ierland, Y. van; Baralle, D.; Santamarina, M.; Lattimore, V.; Wijnen, J.; Whiley, P.; Blanco, A.; Raponi, M.; Hauke, J.; Wappenschmidt, B.; Becker, A.; Hansen, T.V.O.; Behar, R.; Niederacher, D.; Arnold, N.; Dworniczak, B.; Steinemann, D.; Faust, U.; Rubinstein, W.; Hulick, P.J.; Houdayer, C.; Caputo, S.M.; Castera, L.; Pesaran, T.; Chao, E.; Brewer, C.; Southey, M.C.; Asperen, C.J. van (0000-0002-1436-7650); Singer, C.F.; Sullivan, J.; Poplawski, N.; Mai, P.; Peto, J.; Johnson, N.; Burwinkel, B.; Surowy, H.; Bojesen, S.E.; Flyger, H.; Lindblom, A.; Margolin, S.; Chang-Claude, J.; Rudolph, A.; Radice, P.; Galastri, L.; Olson, J.E.; Hallberg, E.; Giles, G.; Milne, R.L.; Andrulis, I.L.; Glendon, G.; Hall, P.; Czene, K.; Blows, F.; Shah, M.; Wang, Q.; Dennis, J.; Michailidou, K.; McGuffog, L.; Bolla, M.K.; Antoniou, A.C.; Easton, D.F.; Couch, F.J.; Tavtigian, S.; Vreeswijk, M.P.; Parsons, M.; Meeks, H.D.; Martins, A.; Goldgar, D.E.; Spurdle, A.B.; KConFaB Investigators
- Published
- 2016
- Publication type
- Article / Letter to editor
- Date issued
- 2016-06-01
- Language
- English
- Is part of
- Human Molecular Genetics (2016), Vol. 25, no. 11, p. 2256-2268
- hdl
- 1887/112988
- doi
- 10.1093/hmg/ddw094