P-242 Germline mutations identified in Colombian patients with Lynch syndrome

Abstract

Colorectal cancer (CRC) is the third cause of death from cancer in the world; in Colombia, it is the fourth neoplasm in men and the third in women. Approximately 70% can be classified as sporadic CRC cases and about 30% of CRC cases show a family history of the disease and about 6% have familial aggregation. In our previous studies, we identified 69 family cases among 1,278 patients, 14 were carriers of 48 mutations in high-risk genes such as APC, MLH1, MSH2, PMS2, PTEN, SMAD4, STK11, POLD1, and POLE, while for the remaining 55 family cases, the genetic basis was not established.