Mutation profiling of breast cancer

In this project the aim is to identify mutations/variations in common biomarkers of breast 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 breast cancer are screened by digital droplet PCR using tumor-derived circulating cell free DNA (ccfDNA) obtained from saliva. The target genes include PIK3CA, TP53, CDH1, ERBB2, BRCA1, RB1.