Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center.

doi:10.1097/CEJ.0000000000000870

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Article

Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: a 10-year experience in a single Italian Cancer Center.

European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) - 1 Jul 2024

Puccini Alberto, Nardin Simone, Trevisan Lucia, Lastraioli Sonia, Gismondi Viviana, Ricciotti Ilaria, Damiani Azzurra, Bregni Giacomo, Murialdo Roberto, Pastorino Alessandro, Martelli Valentino, Gandini Annalice, Mastracci Luca, Varesco Liliana, Dono Maria, Battistuzzi Linda, Grillo Federica, Sciallero Stefania

Abstract excerpt

BACKGROUND: Universal screening of colorectal cancer (CRC) patients for Lynch syndrome (LS) through MisMatch Repair (MMR) testing is recommended. BRAF V600E mutation and/or MLH1 promoter methylation (Reflex Testing, RefT)generally rule out LS in MLH1-deficient (dMLH1) patients. We estimated the impact of RefTon genetic counseling (GC) and on the diagnostic yield of genetic testing (GT). METHODS: Overall, 3199 CRC...

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Identifiers

PMID: 38190337
DOI: 10.1097/CEJ.0000000000000870

Genes

GC
BRAF
MLH1

Variants

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