What a test can show
MSH2 sequencing and CNV analysis including relevant EPCAM deletions; tumour IHC/MSI can guide testing.
Monogenic conditions
MSH2Lynch syndrome
Pathogenic MSH2 variants, and some EPCAM deletions, can disable mismatch repair and raise risks of several cancers.
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
Confirmation affects carrier surveillance and cascade testing in the family.
Where knowledge ends
Tumour MSI-H/dMMR is a treatment biomarker but does not by itself prove an inherited syndrome.
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.