Supplementary Figure 6: FAT gene mutations and loss of heterozygosity.
From: Genomic and molecular characterization of esophageal squamous cell carcinoma
(a) Summary of somatic mutations affecting FAT1, FAT2 and FAT3 across different tumor types from COSMIC. Number in the parentheses indicates the number of cases sequenced. (b) Inactivation of both alleles of FAT1 in two ESCC cases. Upper panel, SNP-array data showing FAT1 loss of heterozygosity in both tumors (ESCC-D10 and ESCC-D20, which were from Discovery Cohort). Blue line, total gene dosage; Green and red line, alleles-specific gene dosage. The number on the left indicates log2 tumor/reference ratio. Lower panel, Sanger sequencing signals confirmed the somatic mutations of FAT1 in both cases. Arrows indicate the beginning of frameshift mutation bases in tumor DNA and the corresponding bases in germline DNA.
