Table of contents

August 2012 - Volume 49 - 8

Genotype-phenotype correlations

Developmental defects

Methods

Cancer genetics

  • Original article: BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
    Amanda B Spurdle, Phillip J Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A Brown, Christopher Pettigrew, kConFab, Christi J Van Asperen, Margreet G E M Ausems, Anna A Kattentidt-Mouravieva, Ans M W van den Ouweland, Dutch Belgium UV Consortium, Annika Lindblom, Maritta H Pigg, Rita K Schmutzler, Christoph Engel, Alfons Meindl, German Consortium of Hereditary Breast and Ovarian Cancer, Sandrine Caputo, Olga M Sinilnikova, Rosette Lidereau, French COVAR group collaborators, Fergus J Couch, Lucia Guidugli, Thomas van Overeem Hansen, Mads Thomassen, Diana M Eccles, Kathy Tucker, Javier Benitez, Susan M Domchek, Amanda E Toland, Elizabeth J Van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P G Vreeswijk, David E Goldgar

New disease loci

Complex traits