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. 2020 Mar 14;12(3):687. doi: 10.3390/cancers12030687

Figure 1.

Figure 1

Frequency of Ataxia-Telangiectasia Mutated (ATM) mutations in human cancer. (A) ATM was queried against all entries in the curated non-redundant data set on c-Bioportal (references [46,47]) accessed January 2020. Duplicate studies were removed and copy number variations are not included. The frequency of ATM alteration in various cancers is shown. (B) ATM is a 3056 amino acid protein consisting of a N-terminal TAN (telomere length maintenance and DNA damage repair) domain (residues 7–165), and a C-terminal kinase domain (residues 2714–2961) flanked by FAT (2097–2488) and FATC (3205–3055) domains. The location of mutations in ATM from all samples in the curated non-redundant data site available on c-Bioportal (references [46,47]), accessed January 2020 (duplicate sets removed and copy number variation not include) is shown. Mutations were distributed across the entire the coding region however, one mutation R337C/H was detected in 74 out of 2263 samples, across all cancers. (C) The R337C/H mutation was frequent in bowel cancer (22 out of 331 samples) but less so in lung (panel D), prostate (panel E) and pancreatic cancers (Panel F).