Oncology

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

  • Authors: Marcy E Richardson; Megan F H Bishop; Megan A Holdren; Miguel de la Hoya; Amanda B Spurdle; Sean V Tavtigian; Terra Brannan; Colin C Young; Lauren Zec; Susan Hiraki; Clare Turnbull; Marc Tischkowitz; Kara A Bernstein; Jean-Yves Masson; Shannon M McNulty; Tina Pesaran; Alvaro N Monteiro; Logan C Walker; William D Foulkes; Fergus J Couch
  • Collaborators: CHU de Québec-Université Laval; GeneDx; Hospital Clínico San Carlos; Institute of Cancer Research, London; Mayo Clinic; McGill University; Moffitt Cancer Center; Natera; QIMR Berghofer Medical Research Institute; University of Cambridge; University of North Carolina at Chapel Hill; University of Otago; University of Pennsylvania; University of Utah
  • Journal: American Journal of Human Genetics
  • Date: 2025 - Oct

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