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.

Autor: Moghadasi S; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA., Vreeswijk MP; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Janssen LA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Borg Å; Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden., Ehrencrona H; Department of Clinical Genetics, Lund University, Lund, Sweden.; Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services, Lund University, Lund, Sweden., Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden., Wappenschmidt B; Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.; Centre for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Cologne, Germany., Engel C; Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.; Department of Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Gehrig A; Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.; Department of Medical Genetics, University Würzburg, Würzburg, Germany.; Institute of Human Genetics, University Würzburg, Würzburg, Germany., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Hansen TVO; Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Ejlertsen B; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Oncology, University of Copenhagen, Copenhagen, Denmark., Gerdes AM; Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.; Department of Clinical Genetics, University of Copenhagen, Copenhagen, Denmark., Pedersen IS; Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark., Caputo SM; Institut Curie, Service de génétique, Paris, France., Couch F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Hallberg EJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA., van den Ouweland AM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Collée MJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Teugels E; Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium., Adank MA; Department of Clinical Genetics, VU Medical Centre, Amsterdam, The Netherlands., van der Luijt RB; Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Mensenkamp AR; Department of Human Genetics, Radboudumc Nijmegen, The Netherlands., Oosterwijk JC; Department of Genetics, University of Groningen, University Medical Centre, Groningen, The Netherlands., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Janin N; Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium., Claes KB; Centre for Medical Genetics, Ghent University Hospital, Belgium., Tucker K; Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia., Viassolo V; Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.; Division of Oncology, Geneva University Hospitals, Geneva, Switzerland., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA., Eccles DE; Faculty of Medicine, University of Southampton, Southampton, UK., Devilee P; Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Spurdle AB; Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia., Goldgar DE; Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA., García EG; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

Publikováno v: Journal of medical genetics [J Med Genet] 2018 Jan; Vol. 55 (1), pp. 15-20. Date of Electronic Publication: 2017 May 10.