Abstract:
Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage
of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary
colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch
repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help
evaluate the cancer risk and, consequently, a proper course of clinical management for the person
harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation
in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence
of lipomas in this patient and his family could be related to this syndrome. Further investigation may
provide a possible visual clue that can indicate a need for genetic screening.
