Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients.

Abstract excerpt

Lynch syndrome (LS) is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1, MSH2, MSH6, and PMS2. Most of genetic variants in the MMR genes predisposing to LS are point mutations, small deletions and insertions but large genomic rearrangements in the MMR genes also predisposing to Lynch syndrome. In this study, we report a novel, large rearrangement of the MSH2 gene, manifested...

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• Colorectal Neoplasms, Hereditary Nonpolyposis
• MLH1 gene
• MSH2 gene
• MSH6 gene
• PMS2 gene