PMC:4385186 / 2544-3897
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385186","sourcedb":"PMC","sourceid":"4385186","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385186","text":"The processes of DNA damage and repair, which produce the somatic mutations in a cancer genome, leave a signature of mutation.3 Recent analyses of comprehensive mutational catalogs from a malignant melanoma and a lung cancer revealed the characteristic mutational patterns of UV light and tobacco carcinogens, respectively.4,5 Exome-wide investigations have characterized somatic point mutations in ESCC and identified the ESCC-associated genes ZNF750 (MIM 610226), FAT1 (MIM 600976), FAT2 (MIM 604269), and FAM135B,6,7 and point mutations in genes such as PLCE1 (MIM 608414), XPF (MIM 133520), ALDH2 (MIM 100650), and MTHFR (MIM 607093) show different signatures between smokers and non-smokers with ESCC.8–10 However, such studies have been limited to a few genes, and it is unclear how representative these findings are of mutational processes operative in ESCC across the whole genome. In this study, we performed whole-genome sequencing (WGS) of 14 and whole-exome sequencing (WES) of 90 ESCC tumors and adjacent normal tissue from individuals recruited from the Taihang Mountains of north-central China and combined our data with those of 88 previously reported samples to extract the mutational signatures that cause somatic mutations in ESCC and identify driver genes or pathways contributing to this highly fetal disease in Chinese individuals.","tracks":[{"project":"2_test","denotations":[{"id":"25839328-24552141-2052561","span":{"begin":126,"end":127},"obj":"24552141"},{"id":"25839328-20016485-2052562","span":{"begin":325,"end":326},"obj":"20016485"},{"id":"25839328-20016488-2052562","span":{"begin":325,"end":326},"obj":"20016488"},{"id":"25839328-24670651-2052563","span":{"begin":518,"end":519},"obj":"24670651"},{"id":"25839328-24686850-2052563","span":{"begin":518,"end":519},"obj":"24686850"},{"id":"25839328-23688607-2052564","span":{"begin":708,"end":710},"obj":"23688607"},{"id":"25839328-24709955-2052564","span":{"begin":708,"end":710},"obj":"24709955"},{"id":"25839328-22126580-2052564","span":{"begin":708,"end":710},"obj":"22126580"}],"attributes":[{"subj":"25839328-24552141-2052561","pred":"source","obj":"2_test"},{"subj":"25839328-20016485-2052562","pred":"source","obj":"2_test"},{"subj":"25839328-20016488-2052562","pred":"source","obj":"2_test"},{"subj":"25839328-24670651-2052563","pred":"source","obj":"2_test"},{"subj":"25839328-24686850-2052563","pred":"source","obj":"2_test"},{"subj":"25839328-23688607-2052564","pred":"source","obj":"2_test"},{"subj":"25839328-24709955-2052564","pred":"source","obj":"2_test"},{"subj":"25839328-22126580-2052564","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93bbec","default":true}]}]}}