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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Moghadasi+S%22">Moghadasi S</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Zanti+M%22">Zanti M</searchLink>; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Bleeker+F%22">Bleeker F</searchLink>; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Blok+M%22">Blok M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Braspenning+ME%22">Braspenning ME</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Cerna+M%22">Cerna M</searchLink>; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Collee+MJ%22">Collee MJ</searchLink>; Department of Clinical Genetics, Erasmus MC Cancer Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Engel+C%22">Engel C</searchLink>; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Hopman+S%22">Hopman S</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kleiblova+P%22">Kleiblova P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Koole+W%22">Koole W</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mensenkamp+A%22">Mensenkamp A</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Overwater+E%22">Overwater E</searchLink>; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Palmero+EI%22">Palmero EI</searchLink>; Brazilian National Cancer Institute, Rio de Janeiro, Brazil.; Barretos Cancer Hospital, Barretos, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Snijders+Blok+L%22">Snijders Blok L</searchLink>; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Storm+K%22">Storm K</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Stringa+N%22">Stringa N</searchLink>; Department of Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wevers+MR%22">Wevers MR</searchLink>; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vreeswijk+MPG%22">Vreeswijk MPG</searchLink>; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Goldgar+D%22">Goldgar D</searchLink>; Huntsman Cancer Institute,University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Michailidou+K%22">Michailidou K</searchLink>; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.<br /><searchLink fieldCode="AU" term="%22Gómez+García+EB%22">Gómez García EB</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands encarna.gomezgarcia@mumc.nl.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2026 Feb 20; Vol. 63 (3), pp. 157-163. <i>Date of Electronic Publication: </i>2026 Feb 20.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1136/jmg-2025-111145
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              Text: 2026 Feb 20
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