What a test can show
The assay must distinguish PMS2 from the PMS2CL pseudogene and detect large rearrangements.
Monogenic conditions
PMS2Lynch syndrome
Pathogenic germline variants raise cancer risk, generally with penetrance different from MLH1/MSH2.
RELATIONSHIP VALIDITYHigh: established causality
ACTIONABILITYHigh after confirmation
SOURCE CHECKLinks and claim boundaries are editorially checked; external expert review is stated only with named disclosure
Practical meaning
Technical assay validity is especially important because of the pseudogene.
Where knowledge ends
A simplified panel or exome may cover some PMS2 exons unreliably.
SOURCES AND VERSION
Verifiable, not ‘trust us’.
Updated: 14 August 2026. Any clinical interpretation requires the exact variant, testing method, family information and medical context.