Profiling cancer gene mutations in longitudinal epithelial ovarian cancer biopsies by targeted next-generation sequencing: a retrospective study

The vast majority of stage III-IV epithelial ovarian cancer (EOC) patients relapse after initial response to platinum-based chemotherapy, and develop resistance. The molecular and genetic features involved in drug resistance are still unknown. To go further in detail we investigated the mutational profile of genes involved in pathways related to drug sensitivity in a cohort of matched tumors taken at primary surgery (Ft-S), and second surgery (Sd-S). 33 matched biopsies taken at Ft-S and Sd-S were selected from “Pandora” tumor tissue collection. DNA libraries for 65 genes were generated using TruSeq Custom Amplicon kit and sequenced on MiSeq (Illumina). Data were analyzed according to established techniques using a high performance cluster computing platform (Cloud4CARE project) and independently validated.