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 P. G. Vreeswijk, Linda A. M. Janssen, Ake 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 Sokilde Pedersen, Sandrine M. Caputo, Fergus CouchEmily J. Hallberg, Ans M. W. van den Ouweland, Margriet J. Collee, Erik Teugels, Muriel A. Adank, Rob B. van der Luijt, Arjen R. Mensenkamp, Jan C. Oosterwijk, Marinus J. Blok, Nicolas Janin, Kathleen B. M. Claes, Kathy Tucker, Valeria Viassolo, Amanda Ewart Toland, Diana E. Eccles, Peter Devilee, Christie J. Van Asperen, Amanda B. Spurdle, David E. Goldgar, Encarna Gomez Garcia*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)15-20
Number of pages6
JournalJournal of Medical Genetics
Volume55
Issue number1
DOIs
Publication statusPublished - 1 Jan 2018

Keywords

  • SEQUENCE VARIANTS
  • CLASSIFICATION
  • MUTATIONS

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