Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Authors: Mads Thomassen; Romy L S Mesman; Thomas V. O. Hansen; Mireia Menendez; Maria Rossing; Ada Esteban-Sánchez; Emma Tudini; Therese Törngren; Michael T Parsons; Inge S Pedersen; Soo H Teo; Torben A Kruse; Pål Møller; Åke Borg; Uffe B Jensen; Lise L Christensen; Christian F Singer; Daniela Muhr; Marta Santamarina; Rita Brandao; Brage S Andresen; Bing-Jian Feng; Daffodil Canson; Marcy E Richardson; Rachid Karam; Tina Pesaran; Holly LaDuca; Blair R Conner; Nelly Abualkheir; Lily Hoang; Fabienne M G R Calléja; Lesley Andrews; Paul A James; Dave Bunyan; Amanda Hamblett; Paolo Radice; David E Goldgar; Logan C Walker; Christoph Engel; Kathleen B M Claes; Eva Macháčková; Diana Baralle; Alessandra Viel; Barbara Wappenschmidt; Conxi Lazaro; Ana Vega; Maaike P G Vreeswijk; Miguel de la Hoya; Amanda B Spurdlee
Collaborators: Aalborg University Hospital; Aarhus University; Cancer Research Malaysia; Centro de Investigación en Red de Enfermedades Raras; Copenhagen University Hospital; Fundación Pública Galega de Medicina Xenómica; Ghent University; Institute of Medical Genetics, Medical University of Vienna; Instituto de Investigación Sanitaria de Santiago de Compostela; IRCCS Istituto Giannina Gaslini; Istituto Nazionale dei Tumori; Leiden University Medical Center; Leipzig University; Lund University; Maastricht University Medical Center; Masaryk University; Middlesex Health Shoreline Cancer Center; Nelune Comprehensive Cancer Care Centre; Odense University Hospital; ONCOBELL-IDIBELL-IDTP; Oslo University Hospital; Peter MacCallum Cancer Centre and Royal Melbourne Hospital; QIMR Berghofer Medical Research Institute; University of Cologne; University of Melbourne; University of Otago; University of Southampton; University of Southern Denmark; University of Utah