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Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms.

Matthew M YehMatthew M YehStephen J SalipanteAngela JacobsonStacey A CohenEric Quentin KonnickVera A Paulson
Published in: JCO precision oncology (2022)
This study confirms that rare germline polymorphisms can result in incorrect IHC results, potentially affecting selection of optimal therapy and the decision to pursue germline testing. This case further highlights the need for expert molecular pathologic review and communication between clinical and molecular oncology teams.
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