Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome

Abstract excerpt

BACKGROUND: Lynch Syndrome (LS) is caused by germline mutations in the DNA mismatch repair (MMR) genes with mutations in MLH1 accounting for ~40% of LS-related alterations. METHODS: MSK-IMPACT analysis was performed on peripheral blood from a patient with early- onset colorectal cancer. Subsequently PCR and sequencing was performed to characterize the insertion. Immunohistochemistry for MMR genes and MLH1...

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