Colon Cancer and Lynch Syndrome

Testing at ARUP Laboratories

  • Universal screening of all colorectal cancer (CRC) specimens (NCCN, 2015; ASCO, 2014) and endometrial cancer specimens (ASCO, 2014; ESMO, 2013;NCCN, 2015) is recommended
  • Lynch Syndrome (LS) is an autosomal dominant inherited cancer syndrome that predisposes to colorectal, endometrial, gastric, ovarian, upper urinary tract, and other cancers
  • The presence of mismatch repair (MMR) deficiency helps identify patients at risk for Lynch syndrome (LS); however, it also occurs in ~15% of sporadic colorectal cancers
  • Differentiating colorectal tumors with MMR deficiency due to a sporadic somatic event from colorectal tumors with MMR deficiency due to a LS germline mutation is important