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.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto