Evidence for pathogenicity of <i>BRCA2</i> c.8351G&gt;A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance
Year: 2025
Type: article
Language: en
Topic: BRCA gene mutations in cancer
Authors and affiliations:
raw_author_name: Setareh Moghadasi
raw_affiliation_strings: Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
raw_author_name: Maria Zanti
raw_affiliation_strings: Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
raw_author_name: Fonnet Bleeker
raw_affiliation_strings: Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands
raw_author_name: Marinus Blok
raw_affiliation_strings: Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
raw_author_name: Merel E Braspenning
raw_affiliation_strings: Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
raw_author_name: Marta Cerna
raw_affiliation_strings: Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
raw_author_name: Margriet J Collee
raw_affiliation_strings: Department of Clinical Genetics, Erasmus MC Cancer Center, Rotterdam, The Netherlands
raw_author_name: Christoph Engel
raw_affiliation_strings: Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
raw_author_name: Saskia Hopman
raw_affiliation_strings: Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
raw_author_name: Petra Kleiblova
raw_affiliation_strings: Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Prague 2, Czech Republic
Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
raw_author_name: Wouter Koole
raw_affiliation_strings: Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
raw_author_name: Arjen Mensenkamp
raw_affiliation_strings: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
raw_author_name: Eline Overwater
raw_affiliation_strings: Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
raw_author_name: Edenir Inez Palmero
raw_affiliation_strings: Barretos Cancer Hospital, Barretos, São Paulo, Brazil
Brazilian National Cancer Institute, Rio de Janeiro, Brazil
raw_author_name: Lot Snijders Blok
raw_affiliation_strings: Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
raw_author_name: Katrien Storm
raw_affiliation_strings: Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium
raw_author_name: Najada Stringa
raw_affiliation_strings: Department of Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands
raw_author_name: Marijke R Wevers
raw_affiliation_strings: Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
raw_author_name: Maaike P G Vreeswijk
raw_affiliation_strings: Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
raw_author_name: David Goldgar
raw_affiliation_strings: Huntsman Cancer Institute,University of Utah, Salt Lake City, Utah, USA
raw_author_name: Kyriaki Michailidou
raw_affiliation_strings: Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
raw_author_name: Encarna B Gómez García
raw_affiliation_strings: Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands