The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Setareh Moghadasi, Huong D Meeks, Maaike PG Vreeswijk, Linda AM Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, Norbert Arnold, Thomas Van Overeem Hansen, Mads Thomassen, Uffe Birk Jensen, Torben A Kruse, Bent Ejlertsen, Anne-Marie Gerdes, Inge Søkilde Pedersen, Sandrine M Caputo, Fergus Couch, Emily J Hallberg, Ans MW van den Ouweland, Margriet J Collée, Erik Teugels, Muriel A Adank, Rob B van der Luijt, Arjen R Mensenkamp, Jan C Oosterwijk, Marinus J Blok, Nicolas Janin, Kathleen BM Claes, Kathy Tucker, Valeria Viassolo, Amanda Ewart Toland, Diana E Eccles, Peter Devilee, Christie J Van Asperen, Amanda B Spurdle, David E Goldgar, Encarna Gómez García
Journal of Medical Genetics Jan 2018, 55 (1) 15-20; DOI: 10.1136/jmedgenet-2017-104560
