Rare CNVs in Lynch Syndrome patients negative for mutations in mismatch repair genes [Affymetrix]

Only a small proportion of cases suspected to have Lynch Syndrome (LS) can be explained by mutation in the mismatch repair (MMR) genes. This study aimed to identify rare CNVs that may contribute to an increased risk for hereditary colorectal cancer in patients with MMR proficiency. Genomic DNA was extracted from the blood of 26 unrelated patients who met criteria for LS (Amsterdam or Bethesda). Genomic alterations were evaluated using the CytoScan HD microarray platform.