A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.

Fátima MarínJúlia Canet-HermidaVanessa BianchiJiil ChungKatharina WimmerWilliam D FoulkesVanesa Pérez-AlonsoNerea Domínguez-PinillaConstantino SábadoFelisa Vázquez-GómezAntonio MolinésVictoria FioravanttiEstela CarrascoLucie K StengsMelissa EdwardsLogine NegmAnirban DasMelyssa AronsonÁngela PastorDaniel RuedaLuis Ignacio González-GranadoUri TaboriGabriel CapelláMarta Pineda

Published in: Clinical chemistry (2024)

Our study confirms the accuracy of the hs-MSI assay as ancillary testing for CMMRD diagnosis, which can also characterize MSI patterns in CMMRD-associated cancers. Hs-MSI is a powerful tool to pinpoint PMS2 as the affected germline gene and thus potentially personalize cancer risk.

Keyphrases

copy number
genome wide
high throughput
dna repair
transcription factor
fluorescent probe
genome wide analysis