While testing of colorectal cancer tumours for mismatch repair defects has been recommended for years, the majority of patients with abnormal results do not complete the next steps, including genetic testing.
Completed genetic testing would determine whether a patient had Lynch syndrome (LS), a hereditary marker for a higher-than-average predisposition for developing colorectal cancer as well as other cancers, including endometrial and ovarian. Early identification of LS in a patient’s family members has the potential to reduce their cancer risk and mortality, increasing the medical benefit of and thereby ultimately lowering testing costs, the study found.
Lynch Syndrome Ireland 