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Identification of a Pathogenic BRCA2 Variant by Multigene Panel Testing in a Blood Group Chimera/Mosaic Case Unclassifiable by Conventional BRCA1/2 Testing

2026-02-24

Abstract excerpt

<title>Abstract</title> <p> In the setting of blood group chimerism/mosaicism, conventional BRCA1/2 genetic testing may yield inconclusive results. Multigene panel testing (MGPT) may overcome this limitation. We report a case in which <italic>BRCA2</italic> pathogenic variant status was successfully determined using MGPT after standard testing was deemed uninterpretable. A 48-year-old woman with locally advanc...

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Literature Corpus work: 1084926b-b54c-5072-aa1c-283cbb60eff9
DOI: 10.21203/rs.3.rs-8494624/v1

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