Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing

We describe a kindred with multiple gastrointestinal malignancies where a novel MSH6 germline susceptibility variant was identified by exome sequencing after eluding serial routine testing in multiple affected members. This case fosters discussion of our current understanding of DNA mismatch repair deficiency, the management of Lynch Syndrome, and the emerging role of next generation sequencing in laboratory medicine to identify rare pathogenic germline variants in a comprehensive, unbiased fashion.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research