Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach

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 Sokilde Pedersen, Soo Hwang Teo, Torben A Kruse, Pål Møller, Åke Borg, Uffe Birk Jensen, Lise Lotte Christensen, Christian F Singer, Daniela Muhr, Marta Santamarina, Rita BrandaoBrage 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, Enigma Consortium, Maaike P G Vreeswijk, Miguel de la Hoya, Amanda B Spurdle*

*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Biochemistry, Genetics and Molecular Biology

Medicine and Dentistry