Case Report: Afatinib Treatment in a Patient With NSCLC Harboring a Rare Exon 20 Mutation.

Unlike most other primary epidermal growth factor receptor () mutations in non-small cell lung cancer (NSCLC), exon 20 insertions, comprising approximately 4% to 10% of all mutations, are generally considered to be resistant to EGFR tyrosine kinase inhibitors (TKIs). However, exon 20 insertions are structurally and pharmacologically heterogeneous, with variability in their position and size having implications for response to different EGFR TKIs. The second-generation ErbB family blocker, afatinib, is approved for the first-line treatment of mutation-positive NSCLC and has been shown to have a broad inhibitory profile against common and uncommon mutations.

VARIFI-Web-Based Automatic Variant Identification, Filtering and Annotation of Amplicon Sequencing Data.

Fast and affordable benchtop sequencers are becoming more important in improving personalized medical treatment. Still, distinguishing genetic variants between healthy and diseased individuals from sequencing errors remains a challenge. Here we present VARIFI, a pipeline for finding reliable genetic variants (single nucleotide polymorphisms (SNPs) and insertions and deletions (indels)).