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

doi:10.1136/jmg-2025-111145

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Article

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

Journal of medical genetics - 20 Feb 2026

Moghadasi Setareh, Zanti Maria, Bleeker Fonnet, Blok Marinus, Braspenning Merel E, Cerna Marta, Collee Margriet J, Engel Christoph, Hopman Saskia, Kleiblova Petra, Koole Wouter, Mensenkamp Arjen, Overwater Eline, Palmero Edenir Inez, Snijders Blok Lot, Storm Katrien, Stringa Najada, Wevers Marijke R, Vreeswijk Maaike P G, Goldgar David, Michailidou Kyriaki, Gómez García Encarna B

Abstract excerpt

BACKGROUND: The BRCA2 c.8351G>A p.(Arg2784Gln) variant has long been classified as a variant of uncertain significance (VUS) due to conflicting evidence used in variant classification. This study aims to clarify its pathogenicity and associated risks for breast and ovarian cancer. METHODS: This study was conducted by the international Evidence-based Network for the Interpretation of Germline Mutant Alleles...

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PMID: 41412794
DOI: 10.1136/jmg-2025-111145

Genes

BRCA2
ATM
CHEK2

Variants

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