Abstract
Colorectal cancer (CRC) is the second most common cancer in females and the third
most common cancer diagnosed in males. Familial CRC comprises ~20 to 30% of all CRC
cases. Lynch syndrome (LS), previously called hereditary nonpolyposis CRC (HNPCC),
is the most common of the hereditary CRC syndromes. In this review, the oncological
management of hereditary colorectal cancer from the medical oncologist perspective
is discussed with special emphasis on Lynch syndrome. Lynch syndrome is characterized
by the presence of germline mutations in the mismatch repair genes (MMR)-MSH2, MLH1,
MSH6, and PMS2. The available data regarding the prognostic role of mismatch repair
genes (MMR), the predictive role of MMR genes, and the implications of that in the
management of patients with deficient MMR genes (dMMR/MSI-H) tumors including Lynch
syndrome patients are also discussed.
Keywords
hereditary colorectal cancer - Lynch syndrome - microsatellite instability - chemotherapy