Mutation profiling of esopahgeal cancer

In this project the aim is to identify mutations/variations in common biomarkers of esophageal cancer. All histological types are included. The germline and somatic mutations are identified based on either target gene sequencing or genome-wide screens (whole exome or target panel sequencing) using peripheral blood or tissue as source of DNA. In addition, a select mutations that are of prognostic and predictive value in esophageal cancer are screened by digital droplet PCR using tumor-derived circulating cell free DNA (ccfDNA) obtained from plasma. The target genes include TP53, LRP1B, PIK3CA, ERBB4, PTPRT, CDKN2A.