Fig. 5

Identification of SMGs and pathways associated with early development of ESCC. a Comparison of stage I and stage III tumors. The identified SMGs and top-ranked pathway predominant in stage I of ESCC are shown. Differences in SMGs and altered pathways between stage I and stage III samples were statistically tested by Fisher’s exact test. b Schematic representation of the domain structure of the NOTCH family and FBXW7, and the location of somatic mutations identified in ESCC tumors. The types and relative positions of confirmed somatic mutations are shown in the transcripts of identified genes using the following symbols: stars, nonsense mutations; circles, missense mutations; diamond, mutations at splice sites; triangles, small insertion or deletion. The upper symbols represent mutations identified in stage I and the lower ones represent mutations identified in stage III tumors. c The main mutations involved in the NOTCH signaling pathway in this cohort. The overall percentage of patients carrying these specific mutations is given and this is also broken down into stage I and stage III tumors