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.
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Johns Hopkins Medicine, All Children's Hospital