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{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385186","sourcedb":"PMC","sourceid":"4385186","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385186","text":"To investigate somatic CNAs in ESCC, we applied a modified GISTIC method to profile genome segments with CNAs in the 14 WGS tumors (Figure S4A). This analysis yielded 126 significantly altered regions (Table S4). One of the most significantly altered regions, 3q26.1–q29, contains SOX2 (MIM 184429), encoding a member of the SRY-related HMG-box family of transcription factors involved in embryonic development regulation and in cell-fate determination.31 This gene is overexpressed in ESCC and associated with chemoresistance. Downregulation of SOX2 might inhibit ESCC tumorigenesis and increase sensitivity to chemotherapy.32 Notably, of the nine tumors harboring SOX2 amplifications, we observed one focal (defined as \u003c100 kb) CNA containing only SOX2 (Figure S5), indicating that SOX2 is the most likely target of 3q26 amplification in ESCC.","tracks":[{"project":"2_test","denotations":[{"id":"25839328-24221193-2052589","span":{"begin":453,"end":455},"obj":"24221193"},{"id":"25839328-23510069-2052590","span":{"begin":625,"end":627},"obj":"23510069"}],"attributes":[{"subj":"25839328-24221193-2052589","pred":"source","obj":"2_test"},{"subj":"25839328-23510069-2052590","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93e8ec","default":true}]}]}}