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

doi:10.1093/clinchem/hvae027

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

Clinical chemistry - 2 May 2024

Marín Fátima, Canet-Hermida Júlia, Bianchi Vanessa, Chung Jiil, Wimmer Katharina, Foulkes William, Pérez-Alonso Vanesa, Domínguez-Pinilla Nerea, Sábado Constantino, Vázquez-Gómez Felisa, Molinés Antonio, Fioravantti Victoria, Carrasco Estela, Stengs Lucie, Edwards Melissa, Negm Logine, Das Anirban, Aronson Melyssa, Pastor Ángela, Rueda Daniel, González-Granado Luis Ignacio, Tabori Uri, Capellá Gabriel, Pineda Marta

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a rare and extraordinarily penetrant childhood-onset cancer predisposition syndrome. Genetic diagnosis is often hampered by the identification of mismatch repair (MMR) variants of unknown significance and difficulties in PMS2 analysis, the most frequently mutated gene in CMMRD. We present the validation of a robust functional tool for CMMRD...

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PMID: 38531023
DOI: 10.1093/clinchem/hvae027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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