Bente A. Talseth-Palmer and colleagues present new and/or more thorough mutation detection approaches with Next-generation sequencing (NGS) to better identify causative germline mutations in mismatch repair (MMR) genes in patients with inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). They identified and classified novel variants; 3 variants were class 5 (pathogenic) or class 4 (likely pathogenic), 5 were class 3 (uncertain clinical relevance) and 40 were classified as variants of unknown clinical significance.
Talseth-Palmer, Bente A. et al. Cancer Medicine.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway