BRCA1/2 somatic mutation detection in formalin-fixed paraffin embedded tissue by next-generation sequencing in Korean ovarian cancer patients

Cost-effective BRCA Testing in Advanced Ovarian Cancer

“…Germline BRCA mutations are analyzed in peripheral blood samples, whereas somatic mutations are detected in tumor samples. In comparison with the analysis of DNA isolated from blood samples, testing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue is challenging because various factors, such as FFPE age, DNA fragmentation, and deamination, can reduce specimen integrity [ 9 , 10 ]. Although BRCA testing using both samples is beneficial for ovarian cancer patients, because of the limited resources, it is desirable to develop an optimal BRCA testing strategy based on economic evaluation.…”