Targeted Next-Generation Sequencing for Hereditary Cancer Syndromes

Lynch syndrome is a hereditary cancer syndrome that results from germline mutations in one of the DNA mismatch repair genes, leading to an increased lifetime risk of cancer. Colorectal cancer is most commonly identified with Lynch syndrome; however, women with Lynch syndrome have an increased risk of developing endometrial cancer (up to 60%), which is the sentinel diagnosis in approximately one-half of the cases. Current screening algorithms are developed on family history and laboratory-based tests, including immunohistochemistry for mismatch repair proteins and microsatellite instability testing.

Source: Journal of Molecular Diagnostics - July 7, 2015 Category: Pathology Authors: Laura J. Tafe Tags: Review Source Type: research