Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.

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Title: Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.
Authors: Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zanti M; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Bleeker F; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands., Blok M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Braspenning ME; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Cerna M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Collee MJ; Department of Clinical Genetics, Erasmus MC Cancer Center, Rotterdam, The Netherlands., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Hopman S; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University in Prague, Prague 2, Czech Republic., Koole W; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Mensenkamp A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Overwater E; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Palmero EI; Brazilian National Cancer Institute, Rio de Janeiro, Brazil.; Barretos Cancer Hospital, Barretos, São Paulo, Brazil., Snijders Blok L; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Storm K; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium., Stringa N; Department of Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands., Wevers MR; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Goldgar D; Huntsman Cancer Institute,University of Utah, Salt Lake City, Utah, USA., Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Gómez García EB; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands encarna.gomezgarcia@mumc.nl.
Source: Journal of medical genetics [J Med Genet] 2026 Feb 20; Vol. 63 (3), pp. 157-163. Date of Electronic Publication: 2026 Feb 20.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2025-111145