Oncology

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

  • Authors: Michael T Parsons; Miguel de la Hoya; Marcy E Richardson; Emma Tudini; Michael Anderson; Windy Berkofsky-Fessler; Sandrine M Caputo; Raymond C Chan; Melissa S Cline; Bing-Jian Feng; Cristina Fortuno; Encarna Gomez-Garcia; Johanna Hadler; Susan Hiraki; Megan Holdren; Claude Houdayer; Kathleen Hruska; Paul James; Rachid Karam; Huei San Leong; Alexandra Martins; Arjen R Mensenkamp; Alvaro N Monteiro; Vaishnavi Nathan; Robert O'Connor; Inge Sokilde Pedersen; Tina Pesaran; Paolo Radice; Gunnar Schmidt; Melissa Southey; Sean Tavtigian; Bryony A Thompson; Amanda E Toland; Clare Turnbull; Maartje J Vogel; Jamie Weyandt; George A R Wiggins; Lauren Zec; Fergus J Couch; Logan C Walker; Maaike P G Vreeswijk; David E Goldgar; Amanda B Spurdle
  • Collaborators: Aalborg University Hospital; Amsterdam University Medical Center; Cancer Council Victoria; Centre Hospitalier Universitaire de Rouen; Color Health; Fondazione IRCCS Istituto Nazionale dei Tumori; France and Paris Sciences Lettres Research University; GeneDx; H. Lee Moffitt Cancer Center and Research Institute; Hannover Medical School; Hospital Clínico San Carlos; Human Genetics Department, Radboud University Medical Center; Invitae Corporation; Leiden University Medical Center; Maastricht University Medical Center; Mayo Clinic; Monash University; Natera; Ohio State University (OSU); Peter MacCallum Cancer Centre and Royal Melbourne Hospital; QIMR Berghofer Medical Research Institute; Royal Melbourne Hospital; The Institute of Cancer Research, Sutton; The University of Queensland; UC Santa Cruz Genomics Institute; University of Melbourne; University of Otago; University of Utah
  • Journal: American journal of human genetics
  • Date: 2024 - Sep

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