Large genome rearrangement of BRCA1/2 in BRCA mutation negative ovarian cancer patients

Background: We performed large genomic rearrangement (LGR) analysis of BRCA1/2 in ovarian cancer patients who were negative for as a result the Next Generation Sequencing (NGS) to determine prevalence and characteristics mutations. Material methods: studied with epithelial diagnosed at Korea Cancer Center since 2008, have confirmed germline BRCA through generation sequencing test our hospital. Among mutation negative, we preferentially selected family history HRD-related cancer. commissioned Green Cross Medical Foundation complex ligation-dependent probe amplification (MLPA) blood samples from patients. mapped site long-range PCR DNA sample which was detected analysis. Results: MLPA on total 36 BRCA-negative As analysis, LGR identified one patient’s sample. The patient stage 2 cancer, BRCA1. detection rate institute 2.8%. Conclusions: This study showed higher than previous papers South Korea. High risk NGS-negative results should be considered detection. importance this could confirmed, it can expected that rationale PARP inhibitor treatment improvement also expected. more mutations is important efforts provide targeted therapy. No conflict interest.