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

doi:10.1136/jmedgenet-2012-101037

Article info

Cancer genetics

Original article

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Authors

Amanda B Spurdle 1Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia2School of Medicine, University of Queensland, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Phillip J Whiley 1Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Bryony Thompson 1Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia2School of Medicine, University of Queensland, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Bingjian Feng 3Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA PubMed articles Google scholar articles
Sue Healey 1Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Melissa A Brown 4School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia PubMed articles Google scholar articles
Christopher Pettigrew 4School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia PubMed articles Google scholar articles
5Peter MacCallum Cancer Institute, Melbourne, Victoria 3000, Australia Google scholar articles
Christi J Van Asperen 6Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Margreet G E M Ausems 7Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands PubMed articles Google scholar articles
Anna A Kattentidt-Mouravieva 8Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands PubMed articles Google scholar articles
Ans M W van den Ouweland 8Department of Clinical Genetics, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands PubMed articles Google scholar articles
Dutch Belgium UV Consortium 9See Appendix for full list of ENIGMA collaborators contributing to this study, operating within and outside of country consortia10Dutch Belgium UV Consortium, Co-ordinator F.B. Hogervorst, The Netherlands Cancer Institute, Amsterdam, The Netherlands PubMed articles Google scholar articles
Annika Lindblom 11Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden PubMed articles Google scholar articles
Maritta H Pigg 12Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden PubMed articles Google scholar articles
Rita K Schmutzler 13Department of Gynaecology and Obstetrics, Centre of Familial Breast and Ovarian Cancer and Centre for Molecular Medicine Cologne, University of Cologne, Cologne, Germany PubMed articles Google scholar articles
Christoph Engel 14Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany PubMed articles Google scholar articles
Alfons Meindl 15Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany PubMed articles Google scholar articles
9See Appendix for full list of ENIGMA collaborators contributing to this study, operating within and outside of country consortia13Department of Gynaecology and Obstetrics, Centre of Familial Breast and Ovarian Cancer and Centre for Molecular Medicine Cologne, University of Cologne, Cologne, Germany Google scholar articles
Sandrine Caputo 16Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint-Cloud, France PubMed articles Google scholar articles
Olga M Sinilnikova 17Unite Mixte de Genetique Constitutionnelle des Cancers Frequents, Hospices Civils de Lyon/Centre Leon Berard, Lyon, France18INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France PubMed articles Google scholar articles
Rosette Lidereau 16Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM, Saint-Cloud, France PubMed articles Google scholar articles
19French COVAR group collaborators co-ordinator Rosette Lidereau, Institut Curie, Hôpital René Huguenin, Service d'Oncogénétique, U735 INSERM—Saint-Cloud, France Google scholar articles
Fergus J Couch 20Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA PubMed articles Google scholar articles
Lucia Guidugli 20Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA PubMed articles Google scholar articles
Thomas van Overeem Hansen 21Center for Genomic Medicine, Rigshospitalet, Copenhagen University hospital, Copenhagen, Denmark PubMed articles Google scholar articles
Mads Thomassen 22Department of Clinical Genetics, Odense University Hospital, Odense, Denmark PubMed articles Google scholar articles
Diana M Eccles 23Faculty of Medicine, University of Southampton, Southampton University Hospital NHS Trust MP824, Southampton, UK PubMed articles Google scholar articles
Kathy Tucker 24Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, Australia PubMed articles Google scholar articles
Javier Benitez 25Spanish National Cancer Centre, Madrid, Spain PubMed articles Google scholar articles
Susan M Domchek 26Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA PubMed articles Google scholar articles
Amanda E Toland 27Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, OSU Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA PubMed articles Google scholar articles
Elizabeth J Van Rensburg 28Department of Genetics, University of Pretoria, Hatfield, South Africa PubMed articles Google scholar articles
Barbara Wappenschmidt 13Department of Gynaecology and Obstetrics, Centre of Familial Breast and Ovarian Cancer and Centre for Molecular Medicine Cologne, University of Cologne, Cologne, Germany PubMed articles Google scholar articles
Åke Borg 29Åke Borg, Department of Oncology, Lund University, Lund, Sweden PubMed articles Google scholar articles
Maaike P G Vreeswijk 30Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
David E Goldgar 3Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA31Huntsman Cancer Institute, Salt Lake City, Utah, USA9See Appendix for full list of ENIGMA collaborators contributing to this study, operating within and outside of country consortia PubMed articles Google scholar articles

Correspondence to Dr Amanda B Spurdle, Division of Genetics and Population Health, Queensland Institute of Medical Research, 300 Herston Road, Herston, QLD 4006, Australia; Amanda.Spurdle{at}qimr.edu.au; Professor David E Goldgar, Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA; david.goldgar{at}hsc.utah.edu

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Citation

Spurdle AB, Whiley PJ, Thompson B, et al

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Journal of Medical Genetics 2012;49:525-532.

Publication history

Received May 9, 2012
Revised July 11, 2012
Accepted July 13, 2012
First published August 12, 2012.

Online issue publication

April 27, 2016

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