Genetics in Medicine Open (Jan 2023)
P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
- Michael Parsons,
- Michael Anderson,
- Windy Berkofsky-Fessler,
- Sandrine Caputo,
- Raymond Chan,
- Melissa Cline,
- Fergus Couch,
- Miguel de la Hoya,
- Bing-Jian Feng,
- David Goldgar,
- Encarna Gomez-Garcia,
- Susan Hiraki,
- Megan Holdren,
- Claude Houdayer,
- Paul James,
- Rachid Karam,
- Huei San Leong,
- Alexandra Martins,
- Arjen Mensenkamp,
- Alvaro Monteiro,
- Vaishnavi Nathan,
- Robert O'Connor,
- Tina Pesaran,
- Paolo Radice,
- Marcy Richardson,
- Gunnar Schmidt,
- Inge Sokilde Pedersen,
- Melissa Southey,
- Sean Tavtigian,
- Bryony Thompson,
- Amanda Toland,
- Emma Tudini,
- Clare Turnbull,
- Maaike Vreeswijk,
- Logan Walker,
- Lauren Zec,
- Amanda Spurdle
Affiliations
- Michael Parsons
- Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
- Michael Anderson
- Invitae Corporation, San Francisco, CA
- Windy Berkofsky-Fessler
- GeneDx, Gaithersburg, MD
- Sandrine Caputo
- Department of Genetics, Institut Curie, and Paris Sciences Lettres Research University Paris, France
- Raymond Chan
- Color Health, Burlingame, CA
- Melissa Cline
- UC Santa Cruz Genomics Institute, University of California, Santa Cruz, CA
- Fergus Couch
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
- Miguel de la Hoya
- Molecular Oncology Laboratory (CIBERONC), Hospital Clínico San Carlos, IdISSC, Madrid, Spain, Department of Dermatology
- Bing-Jian Feng
- Huntsman Cancer Institute, University of Utah School of Medicine
- David Goldgar
- Huntsman Cancer Institute, University of Utah School of Medicine
- Encarna Gomez-Garcia
- Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands
- Susan Hiraki
- GeneDx, Gaithersburg, MD
- Megan Holdren
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
- Claude Houdayer
- Department of Genetics, Normandy University, UNIROUEN, and Rouen University Hospital, France
- Paul James
- Sir Peter MacCallum Department of Oncology, The University of Melbourne, Victoria, Australia
- Rachid Karam
- Ambry Genetics Corporation, Aliso Viejo, CA
- Huei San Leong
- Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia
- Alexandra Martins
- Normandie Univ, Normandy Centre for Genomic and Personalized Medicine, Rouen, France
- Arjen Mensenkamp
- Radboud University Medical Center, Nijmegen, the Netherlands, H.
- Alvaro Monteiro
- Lee Moffitt Cancer Center & Research Institute, Tampa, FL
- Vaishnavi Nathan
- Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
- Robert O'Connor
- Color Health, Burlingame, CA
- Tina Pesaran
- Ambry Genetics Corporation, Aliso Viejo, CA
- Paolo Radice
- Department of Research, Fondazione IRCCS Istituto Nazionale Dei Tumori, Via Venezian 1, Milan, Italy
- Marcy Richardson
- Ambry Genetics Corporation, Aliso Viejo, CA
- Gunnar Schmidt
- Institute of Human Genetics, Hannover Medical School, Hannover, Germany
- Inge Sokilde Pedersen
- Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark
- Melissa Southey
- Cancer Council Victoria and Monash University, Melbourne, VC, Australia
- Sean Tavtigian
- Department of Oncological Sciences and Huntsman Cancer Institute, University of Utah, Salt Lake City
- Bryony Thompson
- Department of Pathology, Royal Melbourne Hospital, Melbourne, VIC, Australia
- Amanda Toland
- The Ohio State University College of Medicine, Columbus, OH
- Emma Tudini
- Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
- Clare Turnbull
- Division of Genetics and Epidemiology, Institute of Cancer Research, London, UK
- Maaike Vreeswijk
- Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
- Logan Walker
- Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand
- Lauren Zec
- Natera, Inc., San Carlos, CA
- Amanda Spurdle
- Population Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100095
